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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: 9-131584333-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131584333&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 131584333,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001377935.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3392A>G",
"hgvs_p": "p.Glu1131Gly",
"transcript": "NM_001377935.1",
"protein_id": "NP_001364864.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3392,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "ENST00000683357.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3392A>G",
"hgvs_p": "p.Glu1131Gly",
"transcript": "ENST00000683357.1",
"protein_id": "ENSP00000508246.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3392,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 6760,
"mane_select": "NM_001377935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2888A>G",
"hgvs_p": "p.Glu963Gly",
"transcript": "ENST00000372190.8",
"protein_id": "ENSP00000361264.3",
"transcript_support_level": 1,
"aa_start": 963,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2885A>G",
"hgvs_p": "p.Glu962Gly",
"transcript": "ENST00000372195.5",
"protein_id": "ENSP00000361269.1",
"transcript_support_level": 1,
"aa_start": 962,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2834A>G",
"hgvs_p": "p.Glu945Gly",
"transcript": "ENST00000372189.7",
"protein_id": "ENSP00000361263.2",
"transcript_support_level": 1,
"aa_start": 945,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2958,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.Glu1094Gly",
"transcript": "NM_001377938.1",
"protein_id": "NP_001364867.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3527,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2888A>G",
"hgvs_p": "p.Glu963Gly",
"transcript": "NM_198679.2",
"protein_id": "NP_941372.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2888,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2885A>G",
"hgvs_p": "p.Glu962Gly",
"transcript": "NM_001304275.2",
"protein_id": "NP_001291204.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3131,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2834A>G",
"hgvs_p": "p.Glu945Gly",
"transcript": "NM_005312.4",
"protein_id": "NP_005303.2",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2834,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2831A>G",
"hgvs_p": "p.Glu944Gly",
"transcript": "NM_001377936.1",
"protein_id": "NP_001364865.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 6113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Glu924Gly",
"transcript": "NM_001377937.1",
"protein_id": "NP_001364866.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3422A>G",
"hgvs_p": "p.Glu1141Gly",
"transcript": "XM_011518571.3",
"protein_id": "XP_011516873.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 3581,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3419A>G",
"hgvs_p": "p.Glu1140Gly",
"transcript": "XM_011518572.3",
"protein_id": "XP_011516874.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3419,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3665,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3413A>G",
"hgvs_p": "p.Glu1138Gly",
"transcript": "XM_006717067.4",
"protein_id": "XP_006717130.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3413,
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"cds_length": 3813,
"cdna_start": 3613,
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"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3395A>G",
"hgvs_p": "p.Glu1132Gly",
"transcript": "XM_005272186.5",
"protein_id": "XP_005272243.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3395,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3344A>G",
"hgvs_p": "p.Glu1115Gly",
"transcript": "XM_017014633.2",
"protein_id": "XP_016870122.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
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"cds_start": 3344,
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"cdna_start": 3377,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3326A>G",
"hgvs_p": "p.Glu1109Gly",
"transcript": "XM_017014635.3",
"protein_id": "XP_016870124.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3326,
"cds_end": null,
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"cdna_start": 3644,
"cdna_end": null,
"cdna_length": 6766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3302A>G",
"hgvs_p": "p.Glu1101Gly",
"transcript": "XM_017014636.3",
"protein_id": "XP_016870125.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3302,
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"cdna_start": 3620,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3299A>G",
"hgvs_p": "p.Glu1100Gly",
"transcript": "XM_006717072.4",
"protein_id": "XP_006717135.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Glu1095Gly",
"transcript": "XM_047423251.1",
"protein_id": "XP_047279207.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3284,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3230A>G",
"hgvs_p": "p.Glu1077Gly",
"transcript": "XM_047423252.1",
"protein_id": "XP_047279208.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1209,
"cds_start": 3230,
"cds_end": null,
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"cdna_start": 3263,
"cdna_end": null,
"cdna_length": 6385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEF1",
"gene_hgnc_id": 4568,
"hgvs_c": "c.3086A>G",
"hgvs_p": "p.Glu1029Gly",
"transcript": "XM_011518576.4",
"protein_id": "XP_011516878.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 6408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
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{
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},
{
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{
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},
{
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{
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RAPGEF1",
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}
],
"gene_symbol": "RAPGEF1",
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"dbsnp": "rs765150170",
"frequency_reference_population": 0.000032249343,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000184885,
"gnomad_genomes_af": 0.000164402,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.701176106929779,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.565,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8579,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.603,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001377935.1",
"gene_symbol": "RAPGEF1",
"hgnc_id": 4568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3392A>G",
"hgvs_p": "p.Glu1131Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}