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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-161791406-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161791406&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161791406,
"ref": "A",
"alt": "AG",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000367942.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355dupG",
"hgvs_p": "p.Glu119fs",
"transcript": "NM_007348.4",
"protein_id": "NP_031374.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 670,
"cds_start": 356,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367942.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007348.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000367942.4",
"protein_id": "ENSP00000356919.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": null,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007348.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367942.4"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355dupG",
"hgvs_p": "p.Glu119fs",
"transcript": "NM_001437597.1",
"protein_id": "NP_001424526.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 689,
"cds_start": 356,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437597.1"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355dupG",
"hgvs_p": "p.Glu119fs",
"transcript": "NM_001410890.1",
"protein_id": "NP_001397819.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 669,
"cds_start": 356,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410890.1"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355dupG",
"hgvs_p": "p.Glu119fs",
"transcript": "XM_011509309.1",
"protein_id": "XP_011507611.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 688,
"cds_start": 356,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509309.1"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355dupG",
"hgvs_p": "p.Glu119fs",
"transcript": "XM_011509310.3",
"protein_id": "XP_011507612.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 595,
"cds_start": 356,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509310.3"
},
{
"aa_ref": "E",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355dupG",
"hgvs_p": "p.Glu119fs",
"transcript": "XM_047449542.1",
"protein_id": "XP_047305498.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 576,
"cds_start": 356,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449542.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000681492.1",
"protein_id": "ENSP00000506139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000951832.1",
"protein_id": "ENSP00000621891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": null,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000680688.1",
"protein_id": "ENSP00000504865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": null,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000951835.1",
"protein_id": "ENSP00000621894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": null,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000679853.1",
"protein_id": "ENSP00000506149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000951834.1",
"protein_id": "ENSP00000621893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000680462.1",
"protein_id": "ENSP00000505583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000862527.1",
"protein_id": "ENSP00000532586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.157-2_157-1insG",
"hgvs_p": null,
"transcript": "ENST00000681036.1",
"protein_id": "ENSP00000505474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681036.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.157-2_157-1insG",
"hgvs_p": null,
"transcript": "ENST00000681541.1",
"protein_id": "ENSP00000506087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000951833.1",
"protein_id": "ENSP00000621892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000679833.1",
"protein_id": "ENSP00000505321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.-30-2_-30-1insG",
"hgvs_p": null,
"transcript": "ENST00000681912.1",
"protein_id": "ENSP00000505875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
"gene_hgnc_id": 791,
"hgvs_c": "c.355-2_355-1insG",
"hgvs_p": null,
"transcript": "ENST00000862528.1",
"protein_id": "ENSP00000532587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATF6",
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Achromatopsia 7",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}