← 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: 1-109757069-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109757069&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EPS8L3",
"hgnc_id": 21297,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_139053.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GSTM5",
"hgnc_id": 4637,
"hgvs_c": "n.83-18003G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000429410.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000241720",
"hgnc_id": null,
"hgvs_c": "n.628-18003G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000431955.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 126622,
"alphamissense_prediction": null,
"alphamissense_score": 0.0779,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0026862919330596924,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "P",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_133181.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361965.9",
"protein_coding": true,
"protein_id": "NP_573444.2",
"strand": false,
"transcript": "NM_133181.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "P",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000361965.9",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133181.4",
"protein_coding": true,
"protein_id": "ENSP00000355255.4",
"strand": false,
"transcript": "ENST00000361965.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000369805.7",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358820.3",
"strand": false,
"transcript": "ENST00000369805.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000361852.8",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354551.4",
"strand": false,
"transcript": "ENST00000361852.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000472325.5",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.*1035C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483789.1",
"strand": false,
"transcript": "ENST00000472325.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000472325.5",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.*1035C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483789.1",
"strand": false,
"transcript": "ENST00000472325.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 675,
"aa_ref": "P",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888981.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559040.1",
"strand": false,
"transcript": "ENST00000888981.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 674,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888977.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Pro437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559036.1",
"strand": false,
"transcript": "ENST00000888977.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 673,
"aa_ref": "P",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888985.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Pro436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559044.1",
"strand": false,
"transcript": "ENST00000888985.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 645,
"aa_ref": "P",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1312,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888976.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Pro438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559035.1",
"strand": false,
"transcript": "ENST00000888976.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 644,
"aa_ref": "P",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888982.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Pro437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559041.1",
"strand": false,
"transcript": "ENST00000888982.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 602,
"aa_ref": "P",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888983.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559042.1",
"strand": false,
"transcript": "ENST00000888983.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "P",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888978.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Pro364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559037.1",
"strand": false,
"transcript": "ENST00000888978.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_139053.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620641.1",
"strand": false,
"transcript": "NM_139053.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "P",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888980.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559039.1",
"strand": false,
"transcript": "ENST00000888980.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 592,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888974.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Pro355Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559033.1",
"strand": false,
"transcript": "ENST00000888974.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888975.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559034.1",
"strand": false,
"transcript": "ENST00000888975.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888973.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559032.1",
"strand": false,
"transcript": "ENST00000888973.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_024526.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078802.2",
"strand": false,
"transcript": "NM_024526.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 562,
"aa_ref": "P",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1689,
"cds_start": 973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000888979.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.973C>T",
"hgvs_p": "p.Pro325Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559038.1",
"strand": false,
"transcript": "ENST00000888979.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 561,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952212.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622271.1",
"strand": false,
"transcript": "ENST00000952212.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 555,
"aa_ref": "P",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1668,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952210.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Pro318Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622269.1",
"strand": false,
"transcript": "ENST00000952210.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1593,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001319952.2",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Pro323Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306881.1",
"strand": false,
"transcript": "NM_001319952.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 516,
"aa_ref": "P",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1551,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888984.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Pro279Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559043.1",
"strand": false,
"transcript": "ENST00000888984.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "P",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952211.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1066C>T",
"hgvs_p": "p.Pro356Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622270.1",
"strand": false,
"transcript": "ENST00000952211.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 602,
"aa_ref": "P",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011542132.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540434.1",
"strand": false,
"transcript": "XM_011542132.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "P",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011542133.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Pro364Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540435.1",
"strand": false,
"transcript": "XM_011542133.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017002327.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857816.1",
"strand": false,
"transcript": "XM_017002327.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017002328.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857817.1",
"strand": false,
"transcript": "XM_017002328.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1707,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011542134.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Pro331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540436.1",
"strand": false,
"transcript": "XM_011542134.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1707,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047430369.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Pro331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286325.1",
"strand": false,
"transcript": "XM_047430369.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1707,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430384.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Pro331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286340.1",
"strand": false,
"transcript": "XM_047430384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017002329.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Pro357Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857818.1",
"strand": false,
"transcript": "XM_017002329.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 560,
"aa_ref": "P",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1683,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430379.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Pro323Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286335.1",
"strand": false,
"transcript": "XM_047430379.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 559,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1680,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430380.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Pro322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286336.1",
"strand": false,
"transcript": "XM_047430380.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 559,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1680,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430382.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Pro322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286338.1",
"strand": false,
"transcript": "XM_047430382.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 538,
"aa_ref": "P",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1617,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011542135.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Pro331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540437.1",
"strand": false,
"transcript": "XM_011542135.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_001737407.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.1219C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001737407.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_007063682.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.1219C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007063682.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 439,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429410.2",
"gene_hgnc_id": 4637,
"gene_symbol": "GSTM5",
"hgvs_c": "n.83-18003G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000429410.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 808,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431955.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000241720",
"hgvs_c": "n.628-18003G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000431955.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs11102001",
"effect": "missense_variant",
"frequency_reference_population": 0.0784555,
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"gnomad_exomes_ac": 103587,
"gnomad_exomes_af": 0.0708625,
"gnomad_exomes_homalt": 5753,
"gnomad_genomes_ac": 23035,
"gnomad_genomes_af": 0.151415,
"gnomad_genomes_homalt": 3233,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 8986,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.203,
"pos": 109757069,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.091,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_139053.3"
}
]
}