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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-45063799-ACTAT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=45063799&ref=ACTAT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 45063799,
"ref": "ACTAT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000611820.5",
"consequences": [
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2065_2068delTCTA",
"hgvs_p": "p.Ser689fs",
"transcript": "NM_001291415.2",
"protein_id": "NP_001278344.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 1453,
"cds_start": 2065,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": "ENST00000611820.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2065_2068delTCTA",
"hgvs_p": "p.Ser689fs",
"transcript": "ENST00000611820.5",
"protein_id": "ENSP00000483595.2",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 1453,
"cds_start": 2065,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": "NM_001291415.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1930_1933delTCTA",
"hgvs_p": "p.Ser644fs",
"transcript": "ENST00000382899.9",
"protein_id": "ENSP00000372355.6",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 1408,
"cds_start": 1930,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 5778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1909_1912delTCTA",
"hgvs_p": "p.Ser637fs",
"transcript": "ENST00000377967.9",
"protein_id": "ENSP00000367203.4",
"transcript_support_level": 1,
"aa_start": 637,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1909,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1774_1777delTCTA",
"hgvs_p": "p.Ser592fs",
"transcript": "ENST00000536777.6",
"protein_id": "ENSP00000437405.3",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 1356,
"cds_start": 1774,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1672_1675delTCTA",
"hgvs_p": "p.Ser558fs",
"transcript": "ENST00000543216.6",
"protein_id": "ENSP00000443078.3",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 1322,
"cds_start": 1672,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 2036,
"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.*903_*906delTCTA",
"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.*903_*906delTCTA",
"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": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2065_2068delTCTA",
"hgvs_p": "p.Ser689fs",
"transcript": "NM_001419809.1",
"protein_id": "NP_001406738.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 1489,
"cds_start": 2065,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1963_1966delTCTA",
"hgvs_p": "p.Ser655fs",
"transcript": "NM_001419810.1",
"protein_id": "NP_001406739.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1963,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1930_1933delTCTA",
"hgvs_p": "p.Ser644fs",
"transcript": "NM_001419811.1",
"protein_id": "NP_001406740.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1444,
"cds_start": 1930,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1909_1912delTCTA",
"hgvs_p": "p.Ser637fs",
"transcript": "NM_001419812.1",
"protein_id": "NP_001406741.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 1437,
"cds_start": 1909,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1987_1990delTCTA",
"hgvs_p": "p.Ser663fs",
"transcript": "ENST00000674586.1",
"protein_id": "ENSP00000502660.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 1427,
"cds_start": 1987,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1963_1966delTCTA",
"hgvs_p": "p.Ser655fs",
"transcript": "NM_001419813.1",
"protein_id": "NP_001406742.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 1419,
"cds_start": 1963,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1930_1933delTCTA",
"hgvs_p": "p.Ser644fs",
"transcript": "NM_001291416.2",
"protein_id": "NP_001278345.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1408,
"cds_start": 1930,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1807_1810delTCTA",
"hgvs_p": "p.Ser603fs",
"transcript": "NM_001419814.1",
"protein_id": "NP_001406743.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 1403,
"cds_start": 1807,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1909_1912delTCTA",
"hgvs_p": "p.Ser637fs",
"transcript": "NM_021140.4",
"protein_id": "NP_066963.2",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 1401,
"cds_start": 1909,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1828_1831delTCTA",
"hgvs_p": "p.Ser610fs",
"transcript": "ENST00000683021.1",
"protein_id": "ENSP00000507416.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1374,
"cds_start": 1828,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1807_1810delTCTA",
"hgvs_p": "p.Ser603fs",
"transcript": "NM_001410742.1",
"protein_id": "NP_001397671.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1807,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1807_1810delTCTA",
"hgvs_p": "p.Ser603fs",
"transcript": "ENST00000675577.1",
"protein_id": "ENSP00000501855.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 1367,
"cds_start": 1807,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1672_1675delTCTA",
"hgvs_p": "p.Ser558fs",
"transcript": "NM_001419815.1",
"protein_id": "NP_001406744.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 1358,
"cds_start": 1672,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1774_1777delTCTA",
"hgvs_p": "p.Ser592fs",
"transcript": "NM_001291417.2",
"protein_id": "NP_001278346.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1356,
"cds_start": 1774,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
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}
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"message": null
}