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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: X-45063635-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=45063635&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 45063635,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000611820.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Thr633Ala",
"transcript": "NM_001291415.2",
"protein_id": "NP_001278344.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1453,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": "ENST00000611820.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Thr633Ala",
"transcript": "ENST00000611820.5",
"protein_id": "ENSP00000483595.2",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 1453,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": "NM_001291415.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Thr588Ala",
"transcript": "ENST00000382899.9",
"protein_id": "ENSP00000372355.6",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 1408,
"cds_start": 1762,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 5778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1741A>G",
"hgvs_p": "p.Thr581Ala",
"transcript": "ENST00000377967.9",
"protein_id": "ENSP00000367203.4",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1741,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Thr536Ala",
"transcript": "ENST00000536777.6",
"protein_id": "ENSP00000437405.3",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 1356,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Thr502Ala",
"transcript": "ENST00000543216.6",
"protein_id": "ENSP00000443078.3",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 1322,
"cds_start": 1504,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "n.*735A>G",
"hgvs_p": null,
"transcript": "ENST00000621147.5",
"protein_id": "ENSP00000478793.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "n.*735A>G",
"hgvs_p": null,
"transcript": "ENST00000621147.5",
"protein_id": "ENSP00000478793.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Thr633Ala",
"transcript": "NM_001419809.1",
"protein_id": "NP_001406738.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1489,
"cds_start": 1897,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1795A>G",
"hgvs_p": "p.Thr599Ala",
"transcript": "NM_001419810.1",
"protein_id": "NP_001406739.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1795,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Thr588Ala",
"transcript": "NM_001419811.1",
"protein_id": "NP_001406740.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1762,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1741A>G",
"hgvs_p": "p.Thr581Ala",
"transcript": "NM_001419812.1",
"protein_id": "NP_001406741.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1437,
"cds_start": 1741,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1819A>G",
"hgvs_p": "p.Thr607Ala",
"transcript": "ENST00000674586.1",
"protein_id": "ENSP00000502660.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1819,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1795A>G",
"hgvs_p": "p.Thr599Ala",
"transcript": "NM_001419813.1",
"protein_id": "NP_001406742.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1419,
"cds_start": 1795,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Thr588Ala",
"transcript": "NM_001291416.2",
"protein_id": "NP_001278345.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1408,
"cds_start": 1762,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Thr547Ala",
"transcript": "NM_001419814.1",
"protein_id": "NP_001406743.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1403,
"cds_start": 1639,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1741A>G",
"hgvs_p": "p.Thr581Ala",
"transcript": "NM_021140.4",
"protein_id": "NP_066963.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1741,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Thr554Ala",
"transcript": "ENST00000683021.1",
"protein_id": "ENSP00000507416.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1374,
"cds_start": 1660,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Thr547Ala",
"transcript": "NM_001410742.1",
"protein_id": "NP_001397671.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1639,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Thr547Ala",
"transcript": "ENST00000675577.1",
"protein_id": "ENSP00000501855.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1639,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1504A>G",
"hgvs_p": "p.Thr502Ala",
"transcript": "NM_001419815.1",
"protein_id": "NP_001406744.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 1358,
"cds_start": 1504,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6A",
"gene_hgnc_id": 12637,
"hgvs_c": "c.1606A>G",
"hgvs_p": "p.Thr536Ala",
"transcript": "NM_001291417.2",
"protein_id": "NP_001278346.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 1356,
"cds_start": 1606,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
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{
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"BS1",
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"phenotype_combined": "not specified|Kabuki syndrome 2|not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}