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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: 20-5106258-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=5106258&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 5106258,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000202834.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000612323.4",
"protein_id": "ENSP00000478641.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 127,
"cds_start": 152,
"cds_end": null,
"cds_length": 384,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000202834.12",
"protein_id": "ENSP00000202834.7",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000379299.6",
"protein_id": "ENSP00000368601.2",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001330987.2",
"protein_id": "NP_001317916.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 127,
"cds_start": 152,
"cds_end": null,
"cds_length": 384,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000615008.4",
"protein_id": "ENSP00000478112.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 127,
"cds_start": 152,
"cds_end": null,
"cds_length": 384,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001009924.2",
"protein_id": "NP_001009924.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001009925.2",
"protein_id": "NP_001009925.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001330984.2",
"protein_id": "NP_001317913.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001330985.2",
"protein_id": "NP_001317914.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001330986.2",
"protein_id": "NP_001317915.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_001423980.1",
"protein_id": "NP_001410909.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "NM_014145.5",
"protein_id": "NP_054864.3",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000342308.11",
"protein_id": "ENSP00000341364.6",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000379277.7",
"protein_id": "ENSP00000368579.2",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
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"cdna_start": 546,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000379279.6",
"protein_id": "ENSP00000368581.2",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000379283.6",
"protein_id": "ENSP00000368585.2",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
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"cdna_start": 498,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000379286.6",
"protein_id": "ENSP00000368588.2",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 120,
"cds_start": 152,
"cds_end": null,
"cds_length": 363,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala",
"transcript": "ENST00000379276.4",
"protein_id": "ENSP00000368578.4",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 73,
"cds_start": 152,
"cds_end": null,
"cds_length": 222,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 306,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "n.568T>C",
"hgvs_p": null,
"transcript": "ENST00000492419.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "n.389T>C",
"hgvs_p": null,
"transcript": "XR_002958476.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "n.283T>C",
"hgvs_p": null,
"transcript": "XR_002958478.2",
"protein_id": 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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "n.283T>C",
"hgvs_p": null,
"transcript": "XR_002958479.2",
"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": 1265,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "n.559T>C",
"hgvs_p": null,
"transcript": "XR_002958484.2",
"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": 1541,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "n.389T>C",
"hgvs_p": null,
"transcript": "XR_007067454.1",
"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": 1372,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"hgvs_c": "c.288+3074T>C",
"hgvs_p": null,
"transcript": "XM_047440132.1",
"protein_id": "XP_047296088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM230",
"gene_hgnc_id": 15876,
"dbsnp": "rs193920937",
"frequency_reference_population": 0.000001368135,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136814,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5656325817108154,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.511,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000202834.12",
"gene_symbol": "TMEM230",
"hgnc_id": 15876,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AD",
"hgvs_c": "c.152T>C",
"hgvs_p": "p.Val51Ala"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}