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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: 1-91962938-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91962938&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91962938,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242806.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "NM_207189.4",
"protein_id": "NP_997072.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399546.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207189.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000399546.7",
"protein_id": "ENSP00000387822.3",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207189.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399546.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000362005.7",
"protein_id": "ENSP00000354568.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362005.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000402388.1",
"protein_id": "ENSP00000384051.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402388.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000426141.6",
"protein_id": "ENSP00000404969.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 461,
"cds_start": 184,
"cds_end": null,
"cds_length": 1388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426141.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.-27-1689C>A",
"hgvs_p": null,
"transcript": "ENST00000370389.6",
"protein_id": "ENSP00000359416.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 874,
"cds_start": null,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370389.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "NM_001242806.2",
"protein_id": "NP_001229735.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 951,
"cds_start": 184,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242806.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "NM_001242805.2",
"protein_id": "NP_001229734.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242805.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "NM_001726.4",
"protein_id": "NP_001717.3",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001726.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "NM_001242807.2",
"protein_id": "NP_001229736.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 901,
"cds_start": 184,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242807.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "NM_001242808.2",
"protein_id": "NP_001229737.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 901,
"cds_start": 184,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242808.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000394530.7",
"protein_id": "ENSP00000378038.3",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 901,
"cds_start": 184,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394530.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Gln76Lys",
"transcript": "ENST00000680091.1",
"protein_id": "ENSP00000506227.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 474,
"cds_start": 226,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680091.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000448194.6",
"protein_id": "ENSP00000410587.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 237,
"cds_start": 184,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448194.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000440509.5",
"protein_id": "ENSP00000416714.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 199,
"cds_start": 184,
"cds_end": null,
"cds_length": 601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440509.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000423434.5",
"protein_id": "ENSP00000396351.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 175,
"cds_start": 184,
"cds_end": null,
"cds_length": 530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423434.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000427104.5",
"protein_id": "ENSP00000400002.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 154,
"cds_start": 184,
"cds_end": null,
"cds_length": 466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427104.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000548992.5",
"protein_id": "ENSP00000447394.1",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 99,
"cds_start": 184,
"cds_end": null,
"cds_length": 301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548992.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000450792.5",
"protein_id": "ENSP00000414349.1",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 95,
"cds_start": 184,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450792.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "ENST00000470955.6",
"protein_id": "ENSP00000506247.1",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 70,
"cds_start": 184,
"cds_end": null,
"cds_length": 215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470955.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "XM_006710855.5",
"protein_id": "XP_006710918.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710855.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRDT",
"gene_hgnc_id": 1105,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Gln62Lys",
"transcript": "XM_006710856.5",
"protein_id": "XP_006710919.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 947,
"cds_start": 184,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710856.5"
},
{
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}