← 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: 1-109750747-GCG-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109750747&ref=GCG&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "EPS8L3",
"hgnc_id": 21297,
"hgvs_c": "c.1684_1686delCGCinsTGT",
"hgvs_p": "p.Arg562Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_139053.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "GSTM5",
"hgnc_id": 4637,
"hgvs_c": "n.83-24325_83-24323delGCGinsACA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000429410.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000241720",
"hgnc_id": null,
"hgvs_c": "n.627+13606_627+13608delGCGinsACA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000431955.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133181.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1681_1683delCGCinsTGT",
"hgvs_p": "p.Arg561Cys",
"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": "C",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361965.9",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1681_1683delCGCinsTGT",
"hgvs_p": "p.Arg561Cys",
"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": "C",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369805.7",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1684_1686delCGCinsTGT",
"hgvs_p": "p.Arg562Cys",
"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": "C",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361852.8",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1591_1593delCGCinsTGT",
"hgvs_p": "p.Arg531Cys",
"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": "C",
"aa_end": null,
"aa_length": 675,
"aa_ref": "R",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1927,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888981.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1927_1929delCGCinsTGT",
"hgvs_p": "p.Arg643Cys",
"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": "C",
"aa_end": null,
"aa_length": 674,
"aa_ref": "R",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888977.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1924_1926delCGCinsTGT",
"hgvs_p": "p.Arg642Cys",
"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": "C",
"aa_end": null,
"aa_length": 673,
"aa_ref": "R",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888985.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1921_1923delCGCinsTGT",
"hgvs_p": "p.Arg641Cys",
"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": "C",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888976.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1837_1839delCGCinsTGT",
"hgvs_p": "p.Arg613Cys",
"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": "C",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888982.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1834_1836delCGCinsTGT",
"hgvs_p": "p.Arg612Cys",
"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": "C",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888983.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1708_1710delCGCinsTGT",
"hgvs_p": "p.Arg570Cys",
"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": "C",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888978.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1705_1707delCGCinsTGT",
"hgvs_p": "p.Arg569Cys",
"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": "C",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_139053.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1684_1686delCGCinsTGT",
"hgvs_p": "p.Arg562Cys",
"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": "C",
"aa_end": null,
"aa_length": 593,
"aa_ref": "R",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888980.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1681_1683delCGCinsTGT",
"hgvs_p": "p.Arg561Cys",
"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": "C",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888974.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1678_1680delCGCinsTGT",
"hgvs_p": "p.Arg560Cys",
"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": "C",
"aa_end": null,
"aa_length": 579,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888975.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1639_1641delCGCinsTGT",
"hgvs_p": "p.Arg547Cys",
"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": "C",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888973.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1594_1596delCGCinsTGT",
"hgvs_p": "p.Arg532Cys",
"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": "C",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024526.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1591_1593delCGCinsTGT",
"hgvs_p": "p.Arg531Cys",
"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": "C",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888979.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1588_1590delCGCinsTGT",
"hgvs_p": "p.Arg530Cys",
"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": "C",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952212.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1585_1587delCGCinsTGT",
"hgvs_p": "p.Arg529Cys",
"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": "C",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952210.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1567_1569delCGCinsTGT",
"hgvs_p": "p.Arg523Cys",
"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": "C",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319952.2",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1492_1494delCGCinsTGT",
"hgvs_p": "p.Arg498Cys",
"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": "C",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888984.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1450_1452delCGCinsTGT",
"hgvs_p": "p.Arg484Cys",
"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": "C",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952211.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1423_1425delCGCinsTGT",
"hgvs_p": "p.Arg475Cys",
"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": "C",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542132.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1708_1710delCGCinsTGT",
"hgvs_p": "p.Arg570Cys",
"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": "C",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542133.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1705_1707delCGCinsTGT",
"hgvs_p": "p.Arg569Cys",
"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": "C",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002328.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1618_1620delCGCinsTGT",
"hgvs_p": "p.Arg540Cys",
"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": "C",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542134.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1606_1608delCGCinsTGT",
"hgvs_p": "p.Arg536Cys",
"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": "C",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430369.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1606_1608delCGCinsTGT",
"hgvs_p": "p.Arg536Cys",
"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": "C",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430384.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1606_1608delCGCinsTGT",
"hgvs_p": "p.Arg536Cys",
"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": "C",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002329.3",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1594_1596delCGCinsTGT",
"hgvs_p": "p.Arg532Cys",
"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": "C",
"aa_end": null,
"aa_length": 560,
"aa_ref": "R",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1582,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430379.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1582_1584delCGCinsTGT",
"hgvs_p": "p.Arg528Cys",
"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": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430380.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1579_1581delCGCinsTGT",
"hgvs_p": "p.Arg527Cys",
"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": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430382.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1579_1581delCGCinsTGT",
"hgvs_p": "p.Arg527Cys",
"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": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542135.4",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "c.1516_1518delCGCinsTGT",
"hgvs_p": "p.Arg506Cys",
"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": 449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000498743.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.313_315delCGCinsTGT",
"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": "ENST00000498743.1",
"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": 1950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XR_007063682.1",
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"hgvs_c": "n.1904_1906delCGCinsTGT",
"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.83-24325_83-24323delGCGinsACA",
"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.627+13606_627+13608delGCGinsACA",
"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": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 21297,
"gene_symbol": "EPS8L3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.109,
"pos": 109750747,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_139053.3"
}
]
}