← Back to variant description
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: 1-156339764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156339764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156339764,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001304826.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304817.2",
"protein_id": "NP_001291746.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368254.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304817.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000368254.6",
"protein_id": "ENSP00000357237.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304817.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368254.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000368252.5",
"protein_id": "ENSP00000357235.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368252.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000368253.6",
"protein_id": "ENSP00000357236.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368253.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000368255.7",
"protein_id": "ENSP00000357238.3",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368255.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp",
"transcript": "NM_001304826.2",
"protein_id": "NP_001291755.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 143,
"cds_start": 61,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304826.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304818.2",
"protein_id": "NP_001291747.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304818.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304819.2",
"protein_id": "NP_001291748.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304819.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304820.1",
"protein_id": "NP_001291749.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304820.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304821.2",
"protein_id": "NP_001291750.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304821.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_144627.5",
"protein_id": "NP_653228.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144627.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000368251.1",
"protein_id": "ENSP00000357234.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368251.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000902464.1",
"protein_id": "ENSP00000572523.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902464.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000922497.1",
"protein_id": "ENSP00000592556.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 125,
"cds_start": 7,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922497.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304822.2",
"protein_id": "NP_001291751.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304822.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304823.2",
"protein_id": "NP_001291752.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304823.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304824.2",
"protein_id": "NP_001291753.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304824.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "NM_001304825.2",
"protein_id": "NP_001291754.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304825.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000466306.5",
"protein_id": "ENSP00000477010.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466306.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000470342.5",
"protein_id": "ENSP00000477074.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470342.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000481479.5",
"protein_id": "ENSP00000476780.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 100,
"cds_start": 7,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481479.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3Trp",
"transcript": "ENST00000922498.1",
"protein_id": "ENSP00000592557.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 82,
"cds_start": 7,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922498.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.104-3876G>A",
"hgvs_p": null,
"transcript": "ENST00000413555.5",
"protein_id": "ENSP00000413308.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413555.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.104-3876G>A",
"hgvs_p": null,
"transcript": "ENST00000446905.5",
"protein_id": "ENSP00000388799.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446905.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"hgvs_c": "n.211C>T",
"hgvs_p": null,
"transcript": "NR_130913.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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": "pseudogene",
"feature": "NR_130913.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "n.95-4846G>A",
"hgvs_p": null,
"transcript": "ENST00000463132.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"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": "pseudogene",
"feature": "ENST00000463132.5"
}
],
"gene_symbol": "TSACC",
"gene_hgnc_id": 30636,
"dbsnp": "rs150449794",
"frequency_reference_population": 0.00020940826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 338,
"gnomad_exomes_af": 0.000214119,
"gnomad_genomes_af": 0.000164182,
"gnomad_exomes_ac": 313,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04210096597671509,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.1188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.857,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001304826.2",
"gene_symbol": "TSACC",
"hgnc_id": 30636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.61C>T",
"hgvs_p": "p.Arg21Trp"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000446905.5",
"gene_symbol": "CCT3",
"hgnc_id": 1616,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.104-3876G>A",
"hgvs_p": null
}
],
"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
}