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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: 15-50484328-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50484328&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50484328,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005154.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu",
"transcript": "NM_005154.5",
"protein_id": "NP_005145.3",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307179.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005154.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu",
"transcript": "ENST00000307179.9",
"protein_id": "ENSP00000302239.4",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005154.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307179.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu",
"transcript": "ENST00000396444.7",
"protein_id": "ENSP00000379721.3",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396444.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1983T>A",
"hgvs_p": "p.Phe661Leu",
"transcript": "ENST00000956759.1",
"protein_id": "ENSP00000626818.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1983,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956759.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu",
"transcript": "NM_001128610.3",
"protein_id": "NP_001122082.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128610.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu",
"transcript": "ENST00000919051.1",
"protein_id": "ENSP00000589110.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919051.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu",
"transcript": "ENST00000919052.1",
"protein_id": "ENSP00000589111.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 1118,
"cds_start": 1857,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919052.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1854T>A",
"hgvs_p": "p.Phe618Leu",
"transcript": "ENST00000919048.1",
"protein_id": "ENSP00000589107.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919048.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1854T>A",
"hgvs_p": "p.Phe618Leu",
"transcript": "ENST00000919050.1",
"protein_id": "ENSP00000589109.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1854,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919050.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1776T>A",
"hgvs_p": "p.Phe592Leu",
"transcript": "ENST00000882495.1",
"protein_id": "ENSP00000552554.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1776,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882495.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1626T>A",
"hgvs_p": "p.Phe542Leu",
"transcript": "ENST00000919053.1",
"protein_id": "ENSP00000589112.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1041,
"cds_start": 1626,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919053.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1626T>A",
"hgvs_p": "p.Phe542Leu",
"transcript": "ENST00000956760.1",
"protein_id": "ENSP00000626819.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 1041,
"cds_start": 1626,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956760.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1608T>A",
"hgvs_p": "p.Phe536Leu",
"transcript": "ENST00000956757.1",
"protein_id": "ENSP00000626816.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1608,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956757.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1137T>A",
"hgvs_p": "p.Phe379Leu",
"transcript": "ENST00000882496.1",
"protein_id": "ENSP00000552555.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 878,
"cds_start": 1137,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1929+2263T>A",
"hgvs_p": null,
"transcript": "ENST00000956763.1",
"protein_id": "ENSP00000626822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1131,
"cds_start": null,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1800+2263T>A",
"hgvs_p": null,
"transcript": "ENST00000919049.1",
"protein_id": "ENSP00000589108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": null,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1800+2263T>A",
"hgvs_p": null,
"transcript": "ENST00000956762.1",
"protein_id": "ENSP00000626821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": null,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956762.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1572+2263T>A",
"hgvs_p": null,
"transcript": "NM_001283049.2",
"protein_id": "NP_001269978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
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"cds_length": 3039,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283049.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1572+2263T>A",
"hgvs_p": null,
"transcript": "ENST00000425032.7",
"protein_id": "ENSP00000412682.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425032.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1219-5473T>A",
"hgvs_p": null,
"transcript": "ENST00000956758.1",
"protein_id": "ENSP00000626817.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1219-5473T>A",
"hgvs_p": null,
"transcript": "ENST00000956761.1",
"protein_id": "ENSP00000626820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956761.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"hgvs_c": "c.1207-5473T>A",
"hgvs_p": null,
"transcript": "ENST00000882497.1",
"protein_id": "ENSP00000552556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "USP8",
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"transcript": "ENST00000561211.6",
"protein_id": "ENSP00000457345.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561211.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP8",
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"hgvs_c": "n.*1510T>A",
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"transcript": "ENST00000561211.6",
"protein_id": "ENSP00000457345.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561211.6"
}
],
"gene_symbol": "USP8",
"gene_hgnc_id": 12631,
"dbsnp": "rs10220843",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.053064048290252686,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.145,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005154.5",
"gene_symbol": "USP8",
"hgnc_id": 12631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1857T>A",
"hgvs_p": "p.Phe619Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}