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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-71366318-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71366318&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71366318,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000715246.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "ENST00000373790.9",
"protein_id": "ENSP00000362895.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": -4,
"cds_end": null,
"cds_length": 5559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.4G>A",
"hgvs_p": "p.Gly2Arg",
"transcript": "ENST00000715246.1",
"protein_id": "ENSP00000520427.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 7820,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.55G>A",
"hgvs_p": null,
"transcript": "ENST00000483365.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1145,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.14G>A",
"hgvs_p": null,
"transcript": "ENST00000683352.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "ENST00000683202.1",
"protein_id": "ENSP00000507781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1877,
"cds_start": -4,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "NM_004606.5",
"protein_id": "NP_004597.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": -4,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": "ENST00000423759.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "ENST00000423759.6",
"protein_id": "ENSP00000406549.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1873,
"cds_start": -4,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": "NM_004606.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "ENST00000683782.1",
"protein_id": "ENSP00000506996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "NM_001286074.2",
"protein_id": "NP_001273003.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1875,
"cds_start": -4,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "NM_001440852.1",
"protein_id": "NP_001427781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1868,
"cds_start": -4,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "NM_138923.4",
"protein_id": "NP_620278.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1852,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7536,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
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"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "NM_001440853.1",
"protein_id": "NP_001427782.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "NM_001440854.1",
"protein_id": "NP_001427783.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1813,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.-39G>A",
"hgvs_p": null,
"transcript": "NR_104387.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.-39G>A",
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"transcript": "NR_104388.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.-39G>A",
"hgvs_p": null,
"transcript": "NR_104389.2",
"protein_id": null,
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},
{
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],
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"intron_rank": null,
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"hgvs_c": "n.-39G>A",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.-39G>A",
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"transcript": "NR_104391.2",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "n.-39G>A",
"hgvs_p": null,
"transcript": "NR_104392.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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},
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"strand": true,
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],
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"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "TAF1",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "TAF1",
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"hgvs_c": "n.-39G>A",
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"transcript": "NR_104395.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1",
"gene_hgnc_id": 11535,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "XM_047442391.1",
"protein_id": "XP_047298347.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}