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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-85711173-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85711173&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85711173,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000359152.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5685G>C",
"hgvs_p": "p.Lys1895Asn",
"transcript": "NM_206927.4",
"protein_id": "NP_996810.2",
"transcript_support_level": null,
"aa_start": 1895,
"aa_end": null,
"aa_length": 2239,
"cds_start": 5685,
"cds_end": null,
"cds_length": 6720,
"cdna_start": 6262,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "ENST00000359152.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5685G>C",
"hgvs_p": "p.Lys1895Asn",
"transcript": "ENST00000359152.10",
"protein_id": "ENSP00000352065.7",
"transcript_support_level": 1,
"aa_start": 1895,
"aa_end": null,
"aa_length": 2239,
"cds_start": 5685,
"cds_end": null,
"cds_length": 6720,
"cdna_start": 6262,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "NM_206927.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1770G>C",
"hgvs_p": "p.Lys590Asn",
"transcript": "ENST00000528231.5",
"protein_id": "ENSP00000431701.1",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 934,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.96G>C",
"hgvs_p": "p.Lys32Asn",
"transcript": "ENST00000525702.5",
"protein_id": "ENSP00000432996.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 376,
"cds_start": 96,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.4308G>C",
"hgvs_p": null,
"transcript": "ENST00000525423.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1759-1673G>C",
"hgvs_p": null,
"transcript": "ENST00000389960.8",
"protein_id": "ENSP00000374610.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "n.37-1673G>C",
"hgvs_p": null,
"transcript": "ENST00000532995.5",
"protein_id": "ENSP00000436678.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5682G>C",
"hgvs_p": "p.Lys1894Asn",
"transcript": "NM_001394447.1",
"protein_id": "NP_001381376.1",
"transcript_support_level": null,
"aa_start": 1894,
"aa_end": null,
"aa_length": 2238,
"cds_start": 5682,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 6259,
"cdna_end": null,
"cdna_length": 8260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5637G>C",
"hgvs_p": "p.Lys1879Asn",
"transcript": "NM_001394448.1",
"protein_id": "NP_001381377.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 2223,
"cds_start": 5637,
"cds_end": null,
"cds_length": 6672,
"cdna_start": 6214,
"cdna_end": null,
"cdna_length": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5637G>C",
"hgvs_p": "p.Lys1879Asn",
"transcript": "NM_001394449.1",
"protein_id": "NP_001381378.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 2223,
"cds_start": 5637,
"cds_end": null,
"cds_length": 6672,
"cdna_start": 6314,
"cdna_end": null,
"cdna_length": 8315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5637G>C",
"hgvs_p": "p.Lys1879Asn",
"transcript": "ENST00000634661.1",
"protein_id": "ENSP00000489269.1",
"transcript_support_level": 5,
"aa_start": 1879,
"aa_end": null,
"aa_length": 2223,
"cds_start": 5637,
"cds_end": null,
"cds_length": 6672,
"cdna_start": 5637,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5634G>C",
"hgvs_p": "p.Lys1878Asn",
"transcript": "NM_206928.4",
"protein_id": "NP_996811.2",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5634,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 6211,
"cdna_end": null,
"cdna_length": 8212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5604G>C",
"hgvs_p": "p.Lys1868Asn",
"transcript": "NM_001394473.1",
"protein_id": "NP_001381402.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 2212,
"cds_start": 5604,
"cds_end": null,
"cds_length": 6639,
"cdna_start": 6181,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5556G>C",
"hgvs_p": "p.Lys1852Asn",
"transcript": "NM_001394450.1",
"protein_id": "NP_001381379.1",
"transcript_support_level": null,
"aa_start": 1852,
"aa_end": null,
"aa_length": 2196,
"cds_start": 5556,
"cds_end": null,
"cds_length": 6591,
"cdna_start": 6133,
"cdna_end": null,
"cdna_length": 8134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.5553G>C",
"hgvs_p": "p.Lys1851Asn",
"transcript": "NM_001394451.1",
"protein_id": "NP_001381380.1",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 2195,
"cds_start": 5553,
"cds_end": null,
"cds_length": 6588,
"cdna_start": 6130,
"cdna_end": null,
"cdna_length": 8131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1821G>C",
"hgvs_p": "p.Lys607Asn",
"transcript": "NM_001394453.1",
"protein_id": "NP_001381382.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 951,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2716,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1821G>C",
"hgvs_p": "p.Lys607Asn",
"transcript": "NM_001394454.1",
"protein_id": "NP_001381383.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 951,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1818G>C",
"hgvs_p": "p.Lys606Asn",
"transcript": "NM_001394455.1",
"protein_id": "NP_001381384.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 950,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1818G>C",
"hgvs_p": "p.Lys606Asn",
"transcript": "NM_001394456.1",
"protein_id": "NP_001381385.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 950,
"cds_start": 1818,
"cds_end": null,
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"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Lys591Asn",
"transcript": "NM_001162953.4",
"protein_id": "NP_001156425.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 935,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Lys591Asn",
"transcript": "ENST00000316356.8",
"protein_id": "ENSP00000318803.4",
"transcript_support_level": 5,
"aa_start": 591,
"aa_end": null,
"aa_length": 935,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2338,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.1770G>C",
"hgvs_p": "p.Lys590Asn",
"transcript": "NM_001162951.4",
"protein_id": "NP_001156423.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 934,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
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"hgvs_c": "c.1681-1673G>C",
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"transcript": "XM_047427175.1",
"protein_id": "XP_047283131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
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"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"hgvs_c": "c.4-1673G>C",
"hgvs_p": null,
"transcript": "XM_011545116.3",
"protein_id": "XP_011543418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYTL2",
"gene_hgnc_id": 15585,
"dbsnp": "rs117681965",
"frequency_reference_population": 0.0020811544,
"hom_count_reference_population": 6,
"allele_count_reference_population": 3359,
"gnomad_exomes_af": 0.00213447,
"gnomad_genomes_af": 0.00156942,
"gnomad_exomes_ac": 3120,
"gnomad_genomes_ac": 239,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00876462459564209,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.208,
"revel_prediction": "Benign",
"alphamissense_score": 0.5709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.852,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000359152.10",
"gene_symbol": "SYTL2",
"hgnc_id": 15585,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5685G>C",
"hgvs_p": "p.Lys1895Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}