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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: 4-54736745-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54736745&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 54736745,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000288135.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"transcript": "NM_000222.3",
"protein_id": "NP_000213.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 976,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000288135.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"transcript": "ENST00000288135.6",
"protein_id": "ENSP00000288135.6",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 976,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_000222.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2609C>T",
"hgvs_p": "p.Pro870Leu",
"transcript": "ENST00000412167.7",
"protein_id": "ENSP00000390987.3",
"transcript_support_level": 1,
"aa_start": 870,
"aa_end": null,
"aa_length": 972,
"cds_start": 2609,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2624C>T",
"hgvs_p": "p.Pro875Leu",
"transcript": "NM_001385284.1",
"protein_id": "NP_001372213.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 977,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2624C>T",
"hgvs_p": "p.Pro875Leu",
"transcript": "ENST00000687109.1",
"protein_id": "ENSP00000509371.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 977,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"transcript": "NM_001385290.1",
"protein_id": "NP_001372219.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 976,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"transcript": "ENST00000689832.1",
"protein_id": "ENSP00000509084.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 976,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2618C>T",
"hgvs_p": "p.Pro873Leu",
"transcript": "NM_001385285.1",
"protein_id": "NP_001372214.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 975,
"cds_start": 2618,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2618C>T",
"hgvs_p": "p.Pro873Leu",
"transcript": "ENST00000692783.1",
"protein_id": "ENSP00000508733.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 975,
"cds_start": 2618,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2612C>T",
"hgvs_p": "p.Pro871Leu",
"transcript": "NM_001385288.1",
"protein_id": "NP_001372217.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 973,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2612C>T",
"hgvs_p": "p.Pro871Leu",
"transcript": "ENST00000690543.1",
"protein_id": "ENSP00000508831.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 973,
"cds_start": 2612,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2609C>T",
"hgvs_p": "p.Pro870Leu",
"transcript": "NM_001093772.2",
"protein_id": "NP_001087241.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 972,
"cds_start": 2609,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2609C>T",
"hgvs_p": "p.Pro870Leu",
"transcript": "NM_001385292.1",
"protein_id": "NP_001372221.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 972,
"cds_start": 2609,
"cds_end": null,
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"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2609C>T",
"hgvs_p": "p.Pro870Leu",
"transcript": "ENST00000687295.1",
"protein_id": "ENSP00000509450.1",
"transcript_support_level": null,
"aa_start": 870,
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"cdna_start": 2735,
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"cdna_length": 5271,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2606C>T",
"hgvs_p": "p.Pro869Leu",
"transcript": "NM_001385286.1",
"protein_id": "NP_001372215.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 971,
"cds_start": 2606,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2606C>T",
"hgvs_p": "p.Pro869Leu",
"transcript": "ENST00000686011.1",
"protein_id": "ENSP00000509704.1",
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Pro829Leu",
"transcript": "ENST00000687246.1",
"protein_id": "ENSP00000509114.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 931,
"cds_start": 2486,
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"cds_length": 2796,
"cdna_start": 2554,
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"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Pro704Leu",
"transcript": "ENST00000689994.1",
"protein_id": "ENSP00000509156.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 806,
"cds_start": 2111,
"cds_end": null,
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"cdna_start": 2643,
"cdna_end": 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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.1313C>T",
"hgvs_p": null,
"transcript": "ENST00000684818.1",
"protein_id": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.2699C>T",
"hgvs_p": null,
"transcript": "ENST00000685269.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.3033C>T",
"hgvs_p": null,
"transcript": "ENST00000687208.1",
"protein_id": null,
"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": 5483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.2779C>T",
"hgvs_p": null,
"transcript": "ENST00000687265.1",
"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": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.418C>T",
"hgvs_p": null,
"transcript": "ENST00000688060.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cds_length": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
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"hgvs_c": "n.2839C>T",
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"transcript": "ENST00000690917.1",
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5266,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
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"hgvs_c": "n.1531C>T",
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"transcript": "ENST00000691361.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3937,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
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"hgvs_c": "n.1313C>T",
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"transcript": "ENST00000692301.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1806,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.2718C>T",
"hgvs_p": null,
"transcript": "ENST00000692991.1",
"protein_id": null,
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"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": 4977,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"dbsnp": "rs753419764",
"frequency_reference_population": 0.00001548964,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000157336,
"gnomad_genomes_af": 0.0000131453,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.784849226474762,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.463,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.938,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,PP3,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP2",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000288135.6",
"gene_symbol": "KIT",
"hgnc_id": 6342,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu"
}
],
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}