← 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: 1-51408279-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51408279&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 51408279,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001410797.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "NM_001981.3",
"protein_id": "NP_001972.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 896,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371733.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001981.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000371733.8",
"protein_id": "ENSP00000360798.3",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 896,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001981.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371733.8"
},
{
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1275+1256C>A",
"hgvs_p": null,
"transcript": "ENST00000371730.6",
"protein_id": "ENSP00000360795.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 762,
"cds_start": null,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371730.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "NM_001410797.1",
"protein_id": "NP_001397726.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 933,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410797.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "ENST00000706292.1",
"protein_id": "ENSP00000516336.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 933,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706292.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "ENST00000926816.1",
"protein_id": "ENSP00000596875.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 933,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926816.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"transcript": "ENST00000889375.1",
"protein_id": "ENSP00000559434.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 904,
"cds_start": 1353,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889375.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000926819.1",
"protein_id": "ENSP00000596878.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 900,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926819.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889376.1",
"protein_id": "ENSP00000559435.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 896,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889376.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "ENST00000956029.1",
"protein_id": "ENSP00000626088.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 895,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956029.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000956027.1",
"protein_id": "ENSP00000626086.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 894,
"cds_start": 1329,
"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": "ENST00000956027.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889387.1",
"protein_id": "ENSP00000559446.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 872,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889387.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Tyr413*",
"transcript": "NM_001410796.1",
"protein_id": "NP_001397725.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 866,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410796.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Tyr413*",
"transcript": "ENST00000706288.1",
"protein_id": "ENSP00000516334.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 866,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706288.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "ENST00000889378.1",
"protein_id": "ENSP00000559437.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 865,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889378.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1233C>A",
"hgvs_p": "p.Tyr411*",
"transcript": "ENST00000889381.1",
"protein_id": "ENSP00000559440.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 864,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889381.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889388.1",
"protein_id": "ENSP00000559447.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 858,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889388.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1203C>A",
"hgvs_p": "p.Tyr401*",
"transcript": "ENST00000889384.1",
"protein_id": "ENSP00000559443.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 854,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889384.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "ENST00000956028.1",
"protein_id": "ENSP00000626087.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 854,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956028.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889379.1",
"protein_id": "ENSP00000559438.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 828,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889379.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Tyr413*",
"transcript": "ENST00000956031.1",
"protein_id": "ENSP00000626090.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 828,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956031.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889385.1",
"protein_id": "ENSP00000559444.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 821,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889385.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1095C>A",
"hgvs_p": "p.Tyr365*",
"transcript": "ENST00000889383.1",
"protein_id": "ENSP00000559442.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 818,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889383.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889377.1",
"protein_id": "ENSP00000559436.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 817,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889377.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000889380.1",
"protein_id": "ENSP00000559439.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 809,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889380.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1263C>A",
"hgvs_p": "p.Tyr421*",
"transcript": "ENST00000956030.1",
"protein_id": "ENSP00000626089.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 806,
"cds_start": 1263,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956030.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Tyr413*",
"transcript": "ENST00000889389.1",
"protein_id": "ENSP00000559448.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 798,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889389.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Tyr413*",
"transcript": "ENST00000956032.1",
"protein_id": "ENSP00000626091.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 787,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956032.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.906C>A",
"hgvs_p": "p.Tyr302*",
"transcript": "ENST00000706287.1",
"protein_id": "ENSP00000516333.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 755,
"cds_start": 906,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706287.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "ENST00000926818.1",
"protein_id": "ENSP00000596877.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 749,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926818.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.777C>A",
"hgvs_p": "p.Tyr259*",
"transcript": "ENST00000889386.1",
"protein_id": "ENSP00000559445.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 712,
"cds_start": 777,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889386.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.615C>A",
"hgvs_p": "p.Tyr205*",
"transcript": "ENST00000926817.1",
"protein_id": "ENSP00000596876.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 658,
"cds_start": 615,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926817.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.387C>A",
"hgvs_p": "p.Tyr129*",
"transcript": "NM_001159969.2",
"protein_id": "NP_001153441.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 582,
"cds_start": 387,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159969.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.387C>A",
"hgvs_p": "p.Tyr129*",
"transcript": "ENST00000493793.2",
"protein_id": "ENSP00000516332.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 582,
"cds_start": 387,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493793.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*",
"transcript": "XM_017000616.3",
"protein_id": "XP_016856105.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 865,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000616.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1329C>A",
"hgvs_p": "p.Tyr443*",
"transcript": "XM_017000617.3",
"protein_id": "XP_016856106.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 828,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000617.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Tyr413*",
"transcript": "XM_017000618.3",
"protein_id": "XP_016856107.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 798,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000618.3"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Tyr292*",
"transcript": "XM_047449243.1",
"protein_id": "XP_047305199.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 745,
"cds_start": 876,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449243.1"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1275+1256C>A",
"hgvs_p": null,
"transcript": "ENST00000889382.1",
"protein_id": "ENSP00000559441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": null,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889382.1"
},
{
"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": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.1185+1256C>A",
"hgvs_p": null,
"transcript": "ENST00000889390.1",
"protein_id": "ENSP00000559449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889390.1"
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "c.562-13832C>A",
"hgvs_p": null,
"transcript": "ENST00000956033.1",
"protein_id": "ENSP00000626092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956033.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.575C>A",
"hgvs_p": null,
"transcript": "ENST00000706289.1",
"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": "ENST00000706289.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.832C>A",
"hgvs_p": null,
"transcript": "ENST00000706290.1",
"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": "ENST00000706290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*277C>A",
"hgvs_p": null,
"transcript": "ENST00000706291.1",
"protein_id": "ENSP00000516335.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*1292C>A",
"hgvs_p": null,
"transcript": "ENST00000706293.1",
"protein_id": "ENSP00000516337.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*277C>A",
"hgvs_p": null,
"transcript": "ENST00000706291.1",
"protein_id": "ENSP00000516335.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"hgvs_c": "n.*1292C>A",
"hgvs_p": null,
"transcript": "ENST00000706293.1",
"protein_id": "ENSP00000516337.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706293.1"
}
],
"gene_symbol": "EPS15",
"gene_hgnc_id": 3419,
"dbsnp": "rs1065754",
"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": 0.5299999713897705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.665,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410797.1",
"gene_symbol": "EPS15",
"hgnc_id": 3419,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Tyr480*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}