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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: 13-32325069-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32325069&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32325069,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000530893.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "NM_000059.4",
"protein_id": "NP_000050.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3418,
"cds_start": -4,
"cds_end": null,
"cds_length": 10257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11954,
"mane_select": "ENST00000380152.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000380152.8",
"protein_id": "ENSP00000369497.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3418,
"cds_start": -4,
"cds_end": null,
"cds_length": 10257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11954,
"mane_select": "NM_000059.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000544455.6",
"protein_id": "ENSP00000439902.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3418,
"cds_start": -4,
"cds_end": null,
"cds_length": 10257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.-53-7G>A",
"hgvs_p": null,
"transcript": "ENST00000530893.7",
"protein_id": "ENSP00000499438.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3295,
"cds_start": -4,
"cds_end": null,
"cds_length": 9888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000614259.2",
"protein_id": "ENSP00000506251.1",
"transcript_support_level": 2,
"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": 11763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "NM_001432077.1",
"protein_id": "NP_001419006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3418,
"cds_start": -4,
"cds_end": null,
"cds_length": 10257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000680887.1",
"protein_id": "ENSP00000505508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3418,
"cds_start": -4,
"cds_end": null,
"cds_length": 10257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "NM_001406720.1",
"protein_id": "NP_001393649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3401,
"cds_start": -4,
"cds_end": null,
"cds_length": 10206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000700202.2",
"protein_id": "ENSP00000514856.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3401,
"cds_start": -4,
"cds_end": null,
"cds_length": 10206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "NM_001406719.1",
"protein_id": "NP_001393648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3386,
"cds_start": -4,
"cds_end": null,
"cds_length": 10161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000713680.1",
"protein_id": "ENSP00000518983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3366,
"cds_start": -4,
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"cds_length": 10101,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
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"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000713678.1",
"protein_id": "ENSP00000518981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3232,
"cds_start": -4,
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"cds_length": 9699,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.317-7G>A",
"hgvs_p": null,
"transcript": "NM_001406721.1",
"protein_id": "NP_001393650.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "c.-53-7G>A",
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"transcript": "NM_001406722.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000470094.2",
"protein_id": "ENSP00000434898.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000528762.2",
"protein_id": "ENSP00000433168.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000665585.2",
"protein_id": "ENSP00000499570.2",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000666593.2",
"protein_id": "ENSP00000499256.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.192-11G>A",
"hgvs_p": null,
"transcript": "ENST00000700200.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.*96-7G>A",
"hgvs_p": null,
"transcript": "ENST00000700201.1",
"protein_id": "ENSP00000514855.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
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"hgvs_c": "n.317-11G>A",
"hgvs_p": null,
"transcript": "ENST00000713677.1",
"protein_id": "ENSP00000518980.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.317-7G>A",
"hgvs_p": null,
"transcript": "ENST00000713679.1",
"protein_id": "ENSP00000518982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 11428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"hgvs_c": "n.516-7G>A",
"hgvs_p": null,
"transcript": "NR_176251.1",
"protein_id": null,
"transcript_support_level": null,
"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": 12018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRCA2",
"gene_hgnc_id": 1101,
"dbsnp": "rs1555280836",
"frequency_reference_population": 7.1995794e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.19958e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09600000083446503,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.52,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000139293801420711,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000530893.7",
"gene_symbol": "BRCA2",
"hgnc_id": 1101,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-53-7G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary breast ovarian cancer syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary breast ovarian cancer syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}