From f4151aa2d760f931f819f954f465ef66055bf258 Mon Sep 17 00:00:00 2001
From: Khaled196 <56037954+khaled196@users.noreply.github.com>
Date: Mon, 22 Jul 2024 13:24:11 +0100
Subject: [PATCH] add beacon import and search tools (#6028)
* add new tools
* add beacon import and search
* add the beacon import and beacon search
* update tools help and tests
* update tool version
* fix .shed text
* fix .shed text
* fix help part in gene
* fix .shed text
* fix linting
* fix ip
* remove password from parmetars
* fix linting
* fix linting
* add more query options and update the script to the latest version
* change the output file format and onother linting errors
* fix spilling
* remove config_file
* add configFile
---
tools/beacon2-import/.shed.yml | 18 +
tools/beacon2-import/analyses.xml | 83 +
tools/beacon2-import/biosamples.xml | 119 +
tools/beacon2-import/bracket.xml | 63 +
tools/beacon2-import/cnv.xml | 82 +
tools/beacon2-import/cohorts.xml | 81 +
tools/beacon2-import/datasets.xml | 64 +
tools/beacon2-import/gene.xml | 68 +
tools/beacon2-import/import.xml | 54 +
tools/beacon2-import/individuals.xml | 98 +
tools/beacon2-import/macros.xml | 55 +
tools/beacon2-import/range.xml | 73 +
tools/beacon2-import/runs.xml | 86 +
tools/beacon2-import/sequence.xml | 61 +
tools/beacon2-import/test-data/HG00096.json | 8867 +++++++++++++++++
.../test-data/analyses_query_findings.json | 9 +
.../test-data/biosamples_query_findings.json | 162 +
.../test-data/bracket_query_findings.json | 30 +
.../test-data/cnv_query_findings.json | 13 +
.../test-data/cohorts_query_findings.json | 8 +
.../test-data/datasets_query_findings.json | 11 +
.../test-data/gene_query_findings.json | 11 +
.../test-data/individuals_query_findings.json | 9 +
tools/beacon2-import/test-data/logs.txt | 591 ++
.../test-data/ranged_query_findings.json | 39 +
.../test-data/runs_query_findings.json | 11 +
.../test-data/sequenced_query_findings.json | 8 +
27 files changed, 10774 insertions(+)
create mode 100644 tools/beacon2-import/.shed.yml
create mode 100644 tools/beacon2-import/analyses.xml
create mode 100644 tools/beacon2-import/biosamples.xml
create mode 100644 tools/beacon2-import/bracket.xml
create mode 100644 tools/beacon2-import/cnv.xml
create mode 100644 tools/beacon2-import/cohorts.xml
create mode 100644 tools/beacon2-import/datasets.xml
create mode 100644 tools/beacon2-import/gene.xml
create mode 100644 tools/beacon2-import/import.xml
create mode 100644 tools/beacon2-import/individuals.xml
create mode 100644 tools/beacon2-import/macros.xml
create mode 100644 tools/beacon2-import/range.xml
create mode 100644 tools/beacon2-import/runs.xml
create mode 100644 tools/beacon2-import/sequence.xml
create mode 100644 tools/beacon2-import/test-data/HG00096.json
create mode 100644 tools/beacon2-import/test-data/analyses_query_findings.json
create mode 100644 tools/beacon2-import/test-data/biosamples_query_findings.json
create mode 100644 tools/beacon2-import/test-data/bracket_query_findings.json
create mode 100644 tools/beacon2-import/test-data/cnv_query_findings.json
create mode 100644 tools/beacon2-import/test-data/cohorts_query_findings.json
create mode 100644 tools/beacon2-import/test-data/datasets_query_findings.json
create mode 100644 tools/beacon2-import/test-data/gene_query_findings.json
create mode 100644 tools/beacon2-import/test-data/individuals_query_findings.json
create mode 100644 tools/beacon2-import/test-data/logs.txt
create mode 100644 tools/beacon2-import/test-data/ranged_query_findings.json
create mode 100644 tools/beacon2-import/test-data/runs_query_findings.json
create mode 100644 tools/beacon2-import/test-data/sequenced_query_findings.json
diff --git a/tools/beacon2-import/.shed.yml b/tools/beacon2-import/.shed.yml
new file mode 100644
index 00000000000..e1dd4c69dcd
--- /dev/null
+++ b/tools/beacon2-import/.shed.yml
@@ -0,0 +1,18 @@
+categories:
+- Variant Analysis
+description: Beacon Import uploads local genetic data to the server, while Beacon Query searches for genetic information such as genes, sequences, and variants.
+long_description: Beacon Import facilitates the seamless transfer of local genetic data to the server, enhancing collaboration and knowledge sharing. Meanwhile,
+ Beacon Query empowers users to efficiently explore the server for specific genetic information, including genes, sequences, variants, cnv, and genomic ranges. The search
+ tools also search the phenopacket and other metadata B2RI collections (individuals, runs, datasets, biosamples, cohorts and analyses),
+ catalyzing genomic research and clinical applications.
+homepage_url: https://pypi.org/project/beacon2-import/
+name: Beacon2_Import
+owner: iuc
+remote_repository_url: https://github.com/galaxyproject/tools-iuc/tree/master/tools/beacon2-import
+auto_tool_repositories:
+ name_template: "{{ tool_id }}"
+ description_template: "Wrapper for {{ tool_name }}."
+suite:
+ name: "suite_beacon2_import"
+ description: "A suite of Galaxy tools designed to work with the beacon2-import python library."
+ type: repository_suite_definition
\ No newline at end of file
diff --git a/tools/beacon2-import/analyses.xml b/tools/beacon2-import/analyses.xml
new file mode 100644
index 00000000000..2239baa366f
--- /dev/null
+++ b/tools/beacon2-import/analyses.xml
@@ -0,0 +1,83 @@
+
+ َQuery the analyses collection in the beacon database for bioinformatic procedures to identify variants
+
+ macros.xml
+
+
+
+ analyses_query_findings.json
+ ]]>
+
+
+
+
+
+
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diff --git a/tools/beacon2-import/biosamples.xml b/tools/beacon2-import/biosamples.xml
new file mode 100644
index 00000000000..950e2b70651
--- /dev/null
+++ b/tools/beacon2-import/biosamples.xml
@@ -0,0 +1,119 @@
+
+ Query the biosamples collection in the beacon database for samples taken from individuals
+
+ macros.xml
+
+
+
+
+ biosamples_query_findings.json
+ ]]>
+
+
+
+
+
+
+
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diff --git a/tools/beacon2-import/bracket.xml b/tools/beacon2-import/bracket.xml
new file mode 100644
index 00000000000..9e69fea2c32
--- /dev/null
+++ b/tools/beacon2-import/bracket.xml
@@ -0,0 +1,63 @@
+
+ Specifies a sequence ranges for both the start and end positions of a genomic variation
+
+ macros.xml
+
+
+
+ bracket_query_findings.json
+ ]]>
+
+
+
+
+
+
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diff --git a/tools/beacon2-import/cnv.xml b/tools/beacon2-import/cnv.xml
new file mode 100644
index 00000000000..df3071584ac
--- /dev/null
+++ b/tools/beacon2-import/cnv.xml
@@ -0,0 +1,82 @@
+
+ Retrieve the copy number varients from genomicVariations collection from the beacon database
+
+ macros.xml
+
+
+
+ cnv_query_findings.json
+ ]]>
+
+
+
+
+
+
+
+
+
+
+
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diff --git a/tools/beacon2-import/cohorts.xml b/tools/beacon2-import/cohorts.xml
new file mode 100644
index 00000000000..977373f3b5c
--- /dev/null
+++ b/tools/beacon2-import/cohorts.xml
@@ -0,0 +1,81 @@
+
+ Query the Cohorts collection in the beacon database
+
+ macros.xml
+
+
+
+
+ cohorts_query_findings.json
+ ]]>
+
+
+
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diff --git a/tools/beacon2-import/datasets.xml b/tools/beacon2-import/datasets.xml
new file mode 100644
index 00000000000..d91f28ec0c0
--- /dev/null
+++ b/tools/beacon2-import/datasets.xml
@@ -0,0 +1,64 @@
+
+ Query the datasets collection in the beacon database groupings of variants or individuals who belong to the same repository
+
+ macros.xml
+
+
+
+
+ datasets_query_findings.json
+ ]]>
+
+
+
+
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diff --git a/tools/beacon2-import/gene.xml b/tools/beacon2-import/gene.xml
new file mode 100644
index 00000000000..af6319963a2
--- /dev/null
+++ b/tools/beacon2-import/gene.xml
@@ -0,0 +1,68 @@
+
+ Queries the beacon database and retrieve the genomic variants matching gene symbol
+
+ macros.xml
+
+
+
+ gene_query_findings.json
+ ]]>
+
+
+
+
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diff --git a/tools/beacon2-import/import.xml b/tools/beacon2-import/import.xml
new file mode 100644
index 00000000000..24ddb2a2d79
--- /dev/null
+++ b/tools/beacon2-import/import.xml
@@ -0,0 +1,54 @@
+
+ Import JSON formatted datasets to beacon database
+
+ macros.xml
+
+
+
+ logs.txt
+ ]]>
+
+
+
+
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diff --git a/tools/beacon2-import/individuals.xml b/tools/beacon2-import/individuals.xml
new file mode 100644
index 00000000000..ee48f65af62
--- /dev/null
+++ b/tools/beacon2-import/individuals.xml
@@ -0,0 +1,98 @@
+
+ Query the individuals collection in the beacon database
+
+ macros.xml
+
+
+
+
+ individuals_query_findings.json
+ ]]>
+
+
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diff --git a/tools/beacon2-import/macros.xml b/tools/beacon2-import/macros.xml
new file mode 100644
index 00000000000..bd088a234cf
--- /dev/null
+++ b/tools/beacon2-import/macros.xml
@@ -0,0 +1,55 @@
+
+ 0
+ 2.2.1
+
+
+ beacon2-import
+
+
+
+
+ ga4gh_beacon
+
+
+
+
+
+
+
+
+
+
+
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+
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+
+
+
+
+
+ 10.1002/humu.24369
+
+
+
+
+
+
+
+
diff --git a/tools/beacon2-import/range.xml b/tools/beacon2-import/range.xml
new file mode 100644
index 00000000000..ca0e63a1f11
--- /dev/null
+++ b/tools/beacon2-import/range.xml
@@ -0,0 +1,73 @@
+
+ Retrieve the genomic variants from the beacon database by specifying start and end positions
+
+ macros.xml
+
+
+
+ ranged_query_findings.json
+ ]]>
+
+
+
+
+
+
+
+
+
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+
+
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+
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diff --git a/tools/beacon2-import/runs.xml b/tools/beacon2-import/runs.xml
new file mode 100644
index 00000000000..9ffe878b3ab
--- /dev/null
+++ b/tools/beacon2-import/runs.xml
@@ -0,0 +1,86 @@
+
+ Query the runs collection in the beacon database
+
+ macros.xml
+
+
+
+
+ runs_query_findings.json
+ ]]>
+
+
+
+
+
+
+
+
+
+
+
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+
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+
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diff --git a/tools/beacon2-import/sequence.xml b/tools/beacon2-import/sequence.xml
new file mode 100644
index 00000000000..90f4ae8561b
--- /dev/null
+++ b/tools/beacon2-import/sequence.xml
@@ -0,0 +1,61 @@
+
+ َQuery for the existence of a specified sequence at a given genomic position
+
+ macros.xml
+
+
+
+ sequenced_query_findings.json
+ ]]>
+
+
+
+
+
+
+
+
+
+
+
+
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diff --git a/tools/beacon2-import/test-data/HG00096.json b/tools/beacon2-import/test-data/HG00096.json
new file mode 100644
index 00000000000..739de07d5a4
--- /dev/null
+++ b/tools/beacon2-import/test-data/HG00096.json
@@ -0,0 +1,8867 @@
+[
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:2650427-2651463:EFO:0030069",
+ "variantType": "DEL",
+ "variantId": "EFO:0030069",
+ "start": 2650427,
+ "end": 2651463,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:2650428-2651463",
+ "cnCount": 0,
+ "cnValue": 1.00369e-09
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:2651463-2653075:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 2651463,
+ "end": 2653075,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:2651464-2653075",
+ "cnCount": 1,
+ "cnValue": 0.395524
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:4063594-4067475:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 4063594,
+ "end": 4067475,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:4063595-4067475",
+ "cnCount": 1,
+ "cnValue": 0.429788
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:6377770-6385660:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 6377770,
+ "end": 6385660,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:6377771-6385660",
+ "cnCount": 1,
+ "cnValue": 0.543097
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:8143311-8150440:EFO:0030071",
+ "variantType": "DUP",
+ "variantId": "EFO:0030071",
+ "start": 8143311,
+ "end": 8150440,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:GAIN:chr1:8143312-8150440",
+ "cnCount": 3,
+ "cnValue": 1.42495
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:13224579-13242034:EFO:0030071",
+ "variantType": "DUP",
+ "variantId": "EFO:0030071",
+ "start": 13224579,
+ "end": 13242034,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:GAIN:chr1:13224580-13242034",
+ "cnCount": 3,
+ "cnValue": 1.49181
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:16605061-16646293:EFO:0030071",
+ "variantType": "DUP",
+ "variantId": "EFO:0030071",
+ "start": 16605061,
+ "end": 16646293,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:GAIN:chr1:16605062-16646293",
+ "cnCount": 7,
+ "cnValue": 3.3289
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:16716711-16728256:EFO:0030071",
+ "variantType": "DUP",
+ "variantId": "EFO:0030071",
+ "start": 16716711,
+ "end": 16728256,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:GAIN:chr1:16716712-16728256",
+ "cnCount": 5,
+ "cnValue": 2.68822
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:16879751-16950196:EFO:0030071",
+ "variantType": "DUP",
+ "variantId": "EFO:0030071",
+ "start": 16879751,
+ "end": 16950196,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:GAIN:chr1:16879752-16950196",
+ "cnCount": 3,
+ "cnValue": 1.53152
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:34636777-34646300:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 34636777,
+ "end": 34646300,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:34636778-34646300",
+ "cnCount": 1,
+ "cnValue": 0.495288
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:36957723-36960386:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 36957723,
+ "end": 36960386,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:36957724-36960386",
+ "cnCount": 1,
+ "cnValue": 0.479029
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:43593157-43594353:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 43593157,
+ "end": 43594353,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:43593158-43594353",
+ "cnCount": 1,
+ "cnValue": 0.289679
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:58278107-58279217:EFO:0030069",
+ "variantType": "DEL",
+ "variantId": "EFO:0030069",
+ "start": 58278107,
+ "end": 58279217,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:58278108-58279217",
+ "cnCount": 0,
+ "cnValue": 0.0937719
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:61647700-61655464:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 61647700,
+ "end": 61655464,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:61647701-61655464",
+ "cnCount": 1,
+ "cnValue": 0.52381
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:62188614-62191346:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 62188614,
+ "end": 62191346,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:62188615-62191346",
+ "cnCount": 1,
+ "cnValue": 0.483858
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:67542030-67543275:EFO:0030069",
+ "variantType": "DEL",
+ "variantId": "EFO:0030069",
+ "start": 67542030,
+ "end": 67543275,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:67542031-67543275",
+ "cnCount": 0,
+ "cnValue": 0.0312573
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:72289205-72345923:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 72289205,
+ "end": 72345923,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:72289206-72345923",
+ "cnCount": 1,
+ "cnValue": 0.486641
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:78183859-78192785:EFO:0030068",
+ "variantType": "DEL",
+ "variantId": "EFO:0030068",
+ "start": 78183859,
+ "end": 78192785,
+ "referenceName": "1",
+ "info": {
+ "legacyId": "DRAGEN:LOSS:chr1:78183860-78192785",
+ "cnCount": 1,
+ "cnValue": 0.482922
+ }
+ },
+ {
+ "biosampleId": "HG00096",
+ "assemblyId": "GRCh38",
+ "variantInternalId": "chr1:89010497-89012783:EFO:0030069",
+ "variantType": "DEL",
+ "variantId": "EFO:0030069",
+ "start": 89010497,
+ "end": 89012783,
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diff --git a/tools/beacon2-import/test-data/analyses_query_findings.json b/tools/beacon2-import/test-data/analyses_query_findings.json
new file mode 100644
index 00000000000..dda13796785
--- /dev/null
+++ b/tools/beacon2-import/test-data/analyses_query_findings.json
@@ -0,0 +1,9 @@
+{'_id': ObjectId('668fc705ef8bca245c3c2185'),
+ 'aligner': 'bwa-0.7.8',
+ 'analysisDate': '2021-04-23',
+ 'biosampleId': 'S0002',
+ 'id': 'refvar-668fc705ef8bca245c3c2185',
+ 'individualId': 'NA24694',
+ 'pipelineName': 'GATK Pipeline 4.2.3.0',
+ 'runId': 'SRR10903402',
+ 'variantCaller': 'GATK4.0'}
diff --git a/tools/beacon2-import/test-data/biosamples_query_findings.json b/tools/beacon2-import/test-data/biosamples_query_findings.json
new file mode 100644
index 00000000000..a1de5b5d01e
--- /dev/null
+++ b/tools/beacon2-import/test-data/biosamples_query_findings.json
@@ -0,0 +1,162 @@
+{'_id': ObjectId('668fb4eb8ed056280039f1bd'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb4eb8ed056280039f1bd',
+ 'individualId': 'NA24631',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb4eb8ed056280039f1be'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb4eb8ed056280039f1be',
+ 'individualId': 'NA24694',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb4eb8ed056280039f1bf'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb4eb8ed056280039f1bf',
+ 'individualId': 'NA24695',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb7125d00a890d911aa69'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb7125d00a890d911aa69',
+ 'individualId': 'NA24631',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb7125d00a890d911aa6a'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb7125d00a890d911aa6a',
+ 'individualId': 'NA24694',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb7125d00a890d911aa6b'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb7125d00a890d911aa6b',
+ 'individualId': 'NA24695',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb721ae6c452887afb69d'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb721ae6c452887afb69d',
+ 'individualId': 'NA24631',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb721ae6c452887afb69e'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb721ae6c452887afb69e',
+ 'individualId': 'NA24694',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
+{'_id': ObjectId('668fb721ae6c452887afb69f'),
+ 'biosampleStatus': {'id': 'EFO:0009655', 'label': 'abnormal sample'},
+ 'collectionDate': '2021-04-23',
+ 'collectionMoment': 'P32Y6M1D',
+ 'diagnosticMarkers': [{'id': 'NCIT:C48726', 'label': 'T2b Stage Finding'}],
+ 'histologicalDiagnosis': {'id': 'NCIT:C39853',
+ 'label': 'Infiltrating Urothelial Carcinoma'},
+ 'id': 'refvar-668fb721ae6c452887afb69f',
+ 'individualId': 'NA24695',
+ 'pathologicalStage': {'id': 'NCIT:C28054', 'label': 'Stage II'},
+ 'pathologicalTnmFinding': [{'id': 'NCIT:C48726',
+ 'label': 'T2b Stage Finding'}],
+ 'sampleOriginDetail': {'id': 'UBERON:0001256',
+ 'label': 'wall of urinary bladde'},
+ 'sampleOriginType': {'id': 'EFO:000965', 'label': 'abnormal sample'},
+ 'tumorGrade': {'id': 'NCIT:C36136', 'label': 'Grade 2 Lesion'},
+ 'tumorProgression': {'id': 'NCIT:C84509',
+ 'label': 'Primary Malignant Neoplasm'}}
diff --git a/tools/beacon2-import/test-data/bracket_query_findings.json b/tools/beacon2-import/test-data/bracket_query_findings.json
new file mode 100644
index 00000000000..f143bcd7099
--- /dev/null
+++ b/tools/beacon2-import/test-data/bracket_query_findings.json
@@ -0,0 +1,30 @@
+{'_id': ObjectId('664218d657ec62781caecec7'),
+ 'aminoacidChange': 'Gly to Ser',
+ 'end': 1800,
+ 'id': 'refvar-664218d657ec62781caecec7',
+ 'referenceName': 'chr4',
+ 'start': 800,
+ 'test_case': 'Test Case 4',
+ 'variantMaxLength': 10,
+ 'variantMinLength': 3,
+ 'variantType': 'Insertion'}
+{'_id': ObjectId('664218d657ec62781caecec8'),
+ 'aminoacidChange': 'Gly to Ser',
+ 'end': 2000,
+ 'id': 'refvar-664218d657ec62781caecec8',
+ 'referenceName': 'chr4',
+ 'start': 1000,
+ 'test_case': 'Test Case 4',
+ 'variantMaxLength': 10,
+ 'variantMinLength': 3,
+ 'variantType': 'Insertion'}
+{'_id': ObjectId('664218d657ec62781caecec9'),
+ 'aminoacidChange': 'Gly to Ser',
+ 'end': 1900,
+ 'id': 'refvar-664218d657ec62781caecec9',
+ 'referenceName': 'chr4',
+ 'start': 900,
+ 'test_case': 'Test Case 4',
+ 'variantMaxLength': 10,
+ 'variantMinLength': 3,
+ 'variantType': 'Insertion'}
diff --git a/tools/beacon2-import/test-data/cnv_query_findings.json b/tools/beacon2-import/test-data/cnv_query_findings.json
new file mode 100644
index 00000000000..adca93f0cd4
--- /dev/null
+++ b/tools/beacon2-import/test-data/cnv_query_findings.json
@@ -0,0 +1,13 @@
+{'_id': ObjectId('6690160a3a936e8e0a7828e2'),
+ 'assemblyId': 'GRCh38',
+ 'biosampleId': 'HG00096',
+ 'definitions': {'Location': {'chromosome': '1',
+ 'end': 243620819,
+ 'start': 243618689}},
+ 'id': 'refvar-6690160a3a936e8e0a7828e2',
+ 'info': {'cnCount': 1,
+ 'cnValue': 0.422353,
+ 'legacyId': 'DRAGEN:LOSS:chr1:243618690-243620819'},
+ 'updated': '2024-07-11T17:26:27.265115',
+ 'variantInternalId': 'chr1:243618689-243620819:EFO:0030068',
+ 'variantState': {'id': 'EFO:0030068', 'label': 'low-level loss'}}
diff --git a/tools/beacon2-import/test-data/cohorts_query_findings.json b/tools/beacon2-import/test-data/cohorts_query_findings.json
new file mode 100644
index 00000000000..28e3a4ccb68
--- /dev/null
+++ b/tools/beacon2-import/test-data/cohorts_query_findings.json
@@ -0,0 +1,8 @@
+{'_id': ObjectId('668fcc22387cab4642e5f1a4'),
+ 'cohortDataTypes': [{'id': 'EFO:0004600', 'label': 'genomic data'},
+ {'id': 'NCIT:C1578', 'label': 'clinical data'},
+ {'id': 'NCIT:C142508', 'label': 'demographic data'}],
+ 'cohortId': 'GiaB',
+ 'cohortName': 'The Genome in a Bottle Consortium (GIAB)',
+ 'cohortType': 'study-defined',
+ 'id': 'refvar-668fcc22387cab4642e5f1a4'}
diff --git a/tools/beacon2-import/test-data/datasets_query_findings.json b/tools/beacon2-import/test-data/datasets_query_findings.json
new file mode 100644
index 00000000000..a1399b9dc32
--- /dev/null
+++ b/tools/beacon2-import/test-data/datasets_query_findings.json
@@ -0,0 +1,11 @@
+{'_id': ObjectId('668fcf57aee552bc911b966e'),
+ 'createDateTime': '2017-04-30T00:00:00+00:00',
+ 'description': 'The Genome in a Bottle Consortium, hosted by the National '
+ 'Institute of Standards and Technology (NIST) is creating '
+ 'reference materials and data for human genome sequencing, as '
+ 'well as methods for genome comparison and benchmarking. ',
+ 'externalUrl': 'https://www.nature.com/articles/sdata201625, '
+ 'https://jimb.stanford.edu/giab-resources',
+ 'id': 'refvar-668fcf57aee552bc911b966e',
+ 'name': 'The Genome in a Bottle Consortium (GIAB)',
+ 'updateDateTime': '2017-04-30T00:00:00+00:00'}
diff --git a/tools/beacon2-import/test-data/gene_query_findings.json b/tools/beacon2-import/test-data/gene_query_findings.json
new file mode 100644
index 00000000000..9126d343797
--- /dev/null
+++ b/tools/beacon2-import/test-data/gene_query_findings.json
@@ -0,0 +1,11 @@
+{'_id': ObjectId('66420b807b0edffcf5545d85'),
+ 'aminoacidChange': 'Ala to Thr',
+ 'end': 1300,
+ 'geneId': 'HAL',
+ 'id': 'refvar-66420b807b0edffcf5545d85',
+ 'referenceName': 'chr5',
+ 'start': 300,
+ 'test_case': 'Test Case 5',
+ 'variantMaxLength': 8,
+ 'variantMinLength': 4,
+ 'variantType': 'Deletion'}
diff --git a/tools/beacon2-import/test-data/individuals_query_findings.json b/tools/beacon2-import/test-data/individuals_query_findings.json
new file mode 100644
index 00000000000..9eb7a46c6fb
--- /dev/null
+++ b/tools/beacon2-import/test-data/individuals_query_findings.json
@@ -0,0 +1,9 @@
+{'_id': ObjectId('668fd04e32491a13d36d3a46'),
+ 'diseases': [{'diseaseCode': {'id': 'HP:000054', 'label': 'intolerance'}}],
+ 'ethnicity': {'id': 'HANCESTRO:0021', 'label': 'Han Chinese'},
+ 'geographicOrigin': {'id': 'GAZ:00002459',
+ 'label': 'United States of America'},
+ 'id': 'refvar-668fd04e32491a13d36d3a46',
+ 'phenotypicFeatures': [{'featureType': {'id': 'NCIT:C3001',
+ 'label': 'NCIT:C3001'}}],
+ 'sex': {'id': 'NCIT:C46112', 'label': 'male'}}
diff --git a/tools/beacon2-import/test-data/logs.txt b/tools/beacon2-import/test-data/logs.txt
new file mode 100644
index 00000000000..30e9fa673a8
--- /dev/null
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+==> inserted refvar-6630e15a0767459cc186e2bc
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+==> inserted refvar-6630e15a0767459cc186e2db
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+==> inserted refvar-6630e15a0767459cc186e2ea
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+==> inserted refvar-6630e15a0767459cc186e2ec
+==> inserted refvar-6630e15a0767459cc186e2ed
+==> inserted refvar-6630e15a0767459cc186e2ee
+==> inserted refvar-6630e15a0767459cc186e2ef
+==> inserted refvar-6630e15a0767459cc186e2f0
+==> inserted refvar-6630e15a0767459cc186e2f1
+==> inserted refvar-6630e15a0767459cc186e2f2
+==> inserted refvar-6630e15a0767459cc186e2f3
+==> inserted refvar-6630e15a0767459cc186e2f4
+==> inserted refvar-6630e15a0767459cc186e2f5
+==> inserted refvar-6630e15a0767459cc186e2f6
+==> inserted refvar-6630e15a0767459cc186e2f7
+==> inserted refvar-6630e15a0767459cc186e2f8
+==> inserted refvar-6630e15a0767459cc186e2f9
+==> inserted refvar-6630e15a0767459cc186e2fa
+==> inserted refvar-6630e15a0767459cc186e2fb
+==> inserted refvar-6630e15a0767459cc186e2fc
+==> inserted refvar-6630e15a0767459cc186e2fd
+==> inserted refvar-6630e15a0767459cc186e2fe
+==> inserted refvar-6630e15a0767459cc186e2ff
+==> inserted refvar-6630e15a0767459cc186e300
+==> inserted refvar-6630e15a0767459cc186e301
+==> inserted refvar-6630e15a0767459cc186e302
+==> inserted refvar-6630e15a0767459cc186e303
+==> inserted refvar-6630e15a0767459cc186e304
+==> inserted refvar-6630e15a0767459cc186e305
+==> inserted refvar-6630e15a0767459cc186e306
+==> inserted refvar-6630e15a0767459cc186e307
+==> inserted refvar-6630e15a0767459cc186e308
+==> inserted refvar-6630e15a0767459cc186e309
+==> inserted refvar-6630e15a0767459cc186e30a
+==> inserted refvar-6630e15a0767459cc186e30b
+==> inserted refvar-6630e15a0767459cc186e30c
+==> inserted refvar-6630e15a0767459cc186e30d
+==> inserted refvar-6630e15a0767459cc186e30e
+==> inserted refvar-6630e15a0767459cc186e30f
+==> inserted refvar-6630e15a0767459cc186e310
+==> inserted refvar-6630e15a0767459cc186e311
+==> inserted refvar-6630e15a0767459cc186e312
+==> inserted refvar-6630e15a0767459cc186e313
+==> inserted refvar-6630e15a0767459cc186e314
+==> inserted refvar-6630e15a0767459cc186e315
+==> inserted refvar-6630e15a0767459cc186e316
+==> inserted refvar-6630e15a0767459cc186e317
+==> inserted refvar-6630e15a0767459cc186e318
+==> inserted refvar-6630e15a0767459cc186e319
+==> inserted refvar-6630e15a0767459cc186e31a
+==> inserted refvar-6630e15a0767459cc186e31b
+==> inserted refvar-6630e15a0767459cc186e31c
+==> inserted refvar-6630e15a0767459cc186e31d
+==> inserted refvar-6630e15a0767459cc186e31e
+==> inserted refvar-6630e15a0767459cc186e31f
+==> inserted refvar-6630e15a0767459cc186e320
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+==> inserted refvar-6630e15a0767459cc186e322
+==> inserted refvar-6630e15a0767459cc186e323
+==> inserted refvar-6630e15a0767459cc186e324
+==> inserted refvar-6630e15a0767459cc186e325
+==> inserted refvar-6630e15a0767459cc186e326
+==> inserted refvar-6630e15a0767459cc186e327
+==> inserted refvar-6630e15a0767459cc186e328
+==> inserted refvar-6630e15a0767459cc186e329
+==> inserted refvar-6630e15a0767459cc186e32a
+==> inserted refvar-6630e15a0767459cc186e32b
+==> inserted refvar-6630e15a0767459cc186e32c
+==> inserted refvar-6630e15a0767459cc186e32d
+==> inserted refvar-6630e15a0767459cc186e32e
+==> inserted refvar-6630e15a0767459cc186e32f
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+==> inserted refvar-6630e15a0767459cc186e334
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+==> inserted refvar-6630e15a0767459cc186e336
+==> inserted refvar-6630e15a0767459cc186e337
+==> inserted refvar-6630e15a0767459cc186e338
+==> inserted refvar-6630e15a0767459cc186e339
+==> inserted refvar-6630e15a0767459cc186e33a
+==> inserted refvar-6630e15a0767459cc186e33b
+==> inserted refvar-6630e15a0767459cc186e33c
+==> inserted refvar-6630e15a0767459cc186e33d
+==> inserted refvar-6630e15a0767459cc186e33e
+==> inserted refvar-6630e15a0767459cc186e33f
+==> inserted refvar-6630e15a0767459cc186e340
+==> inserted refvar-6630e15a0767459cc186e341
diff --git a/tools/beacon2-import/test-data/ranged_query_findings.json b/tools/beacon2-import/test-data/ranged_query_findings.json
new file mode 100644
index 00000000000..6c65e42f96f
--- /dev/null
+++ b/tools/beacon2-import/test-data/ranged_query_findings.json
@@ -0,0 +1,39 @@
+{'_id': ObjectId('6632291df0e80a1345b280d9'),
+ 'assemblyId': 'GRCh38',
+ 'biosampleId': 'HG00096',
+ 'end': 2651463,
+ 'id': 'refvar-6632291df0e80a1345b280d9',
+ 'info': {'cnCount': 0,
+ 'cnValue': 1.00369e-09,
+ 'legacyId': 'DRAGEN:LOSS:chr1:2650428-2651463'},
+ 'referenceName': '1',
+ 'start': 2650427,
+ 'variantId': 'EFO:0030069',
+ 'variantInternalId': 'chr1:2650427-2651463:EFO:0030069',
+ 'variantType': 'DEL'}
+{'_id': ObjectId('6632296d551494bb7866e39a'),
+ 'assemblyId': 'GRCh38',
+ 'biosampleId': 'HG00096',
+ 'end': 2651463,
+ 'id': 'refvar-6632296d551494bb7866e39a',
+ 'info': {'cnCount': 0,
+ 'cnValue': 1.00369e-09,
+ 'legacyId': 'DRAGEN:LOSS:chr1:2650428-2651463'},
+ 'referenceName': '1',
+ 'start': 2650427,
+ 'variantId': 'EFO:0030069',
+ 'variantInternalId': 'chr1:2650427-2651463:EFO:0030069',
+ 'variantType': 'DEL'}
+{'_id': ObjectId('6632296f52df1a5f88158d58'),
+ 'assemblyId': 'GRCh38',
+ 'biosampleId': 'HG00096',
+ 'end': 2651463,
+ 'id': 'refvar-6632296f52df1a5f88158d58',
+ 'info': {'cnCount': 0,
+ 'cnValue': 1.00369e-09,
+ 'legacyId': 'DRAGEN:LOSS:chr1:2650428-2651463'},
+ 'referenceName': '1',
+ 'start': 2650427,
+ 'variantId': 'EFO:0030069',
+ 'variantInternalId': 'chr1:2650427-2651463:EFO:0030069',
+ 'variantType': 'DEL'}
diff --git a/tools/beacon2-import/test-data/runs_query_findings.json b/tools/beacon2-import/test-data/runs_query_findings.json
new file mode 100644
index 00000000000..6a52091c5f3
--- /dev/null
+++ b/tools/beacon2-import/test-data/runs_query_findings.json
@@ -0,0 +1,11 @@
+{'_id': ObjectId('668fb39af8fd7572a152ddd2'),
+ 'biosampleId': 'S0003',
+ 'id': 'refvar-668fb39af8fd7572a152ddd2',
+ 'individualId': 'NA24695',
+ 'libraryLayout': 'PAIRED',
+ 'librarySelection': 'LD-PCR',
+ 'librarySource': {'id': 'NNN:01', 'label': 'KAPA library quantification kit'},
+ 'libraryStrategy': 'WGS',
+ 'platform': 'Illumina ',
+ 'platformModel': {'id': 'MODEL:HiSeq 2500 ', 'label': '2017-04-30'},
+ 'runDate': '2017-04-30'}
diff --git a/tools/beacon2-import/test-data/sequenced_query_findings.json b/tools/beacon2-import/test-data/sequenced_query_findings.json
new file mode 100644
index 00000000000..3ba9ba41457
--- /dev/null
+++ b/tools/beacon2-import/test-data/sequenced_query_findings.json
@@ -0,0 +1,8 @@
+{'_id': ObjectId('6642048d834d5e4d6f90e978'),
+ 'alternateBases': 'A',
+ 'end': 1500,
+ 'id': 'refvar-6642048d834d5e4d6f90e978',
+ 'referenceBases': 'T',
+ 'referenceName': 'chr2',
+ 'start': 500,
+ 'test_case': 'Test Case 2'}