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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-71379001-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71379001&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71379001,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004606.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "NM_004606.5",
"protein_id": "NP_004597.3",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1873,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": "ENST00000423759.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "ENST00000423759.6",
"protein_id": "ENSP00000406549.2",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 1873,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": "NM_004606.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "ENST00000373790.9",
"protein_id": "ENSP00000362895.5",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 1852,
"cds_start": 1267,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 7629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "ENST00000683782.1",
"protein_id": "ENSP00000506996.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1907,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5724,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Arg464Gly",
"transcript": "ENST00000715246.1",
"protein_id": "ENSP00000520427.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1893,
"cds_start": 1390,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "ENST00000683202.1",
"protein_id": "ENSP00000507781.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1877,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 6221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "NM_001286074.2",
"protein_id": "NP_001273003.2",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1875,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "NM_001440852.1",
"protein_id": "NP_001427781.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1868,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "NM_138923.4",
"protein_id": "NP_620278.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1852,
"cds_start": 1267,
"cds_end": null,
"cds_length": 5559,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "NM_001440853.1",
"protein_id": "NP_001427782.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1834,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "NM_001440854.1",
"protein_id": "NP_001427783.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1813,
"cds_start": 1267,
"cds_end": null,
"cds_length": 5442,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 6034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Arg206Gly",
"transcript": "ENST00000276072.9",
"protein_id": "ENSP00000276072.5",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 1637,
"cds_start": 616,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 6872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047442391.1",
"protein_id": "XP_047298347.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1907,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5724,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047442392.1",
"protein_id": "XP_047298348.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1906,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "XM_047442393.1",
"protein_id": "XP_047298349.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1886,
"cds_start": 1267,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 7444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "XM_047442394.1",
"protein_id": "XP_047298350.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1885,
"cds_start": 1267,
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"cdna_start": 1285,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047442395.1",
"protein_id": "XP_047298351.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1873,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047442396.1",
"protein_id": "XP_047298352.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1872,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 7402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047442398.1",
"protein_id": "XP_047298354.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1867,
"cds_start": 1330,
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"cdna_start": 1348,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "XM_047442399.1",
"protein_id": "XP_047298355.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1852,
"cds_start": 1267,
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"cdna_start": 1285,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "XM_047442400.1",
"protein_id": "XP_047298356.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1851,
"cds_start": 1267,
"cds_end": null,
"cds_length": 5556,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 7339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Arg444Gly",
"transcript": "XM_047442402.1",
"protein_id": "XP_047298358.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1833,
"cds_start": 1330,
"cds_end": null,
"cds_length": 5502,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.1330A>G",
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}