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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-111196488-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111196488&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111196488,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000372007.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_002578.5",
"protein_id": "NP_002569.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 9126,
"mane_select": "ENST00000372007.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "ENST00000372007.10",
"protein_id": "ENSP00000361077.4",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 9126,
"mane_select": "NM_002578.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455*",
"transcript": "ENST00000360648.8",
"protein_id": "ENSP00000353864.4",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 580,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440*",
"transcript": "ENST00000417227.5",
"protein_id": "ENSP00000389172.1",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 565,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "ENST00000262836.6",
"protein_id": "ENSP00000262836.4",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "ENST00000446737.5",
"protein_id": "ENSP00000410853.1",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455*",
"transcript": "NM_001128168.3",
"protein_id": "NP_001121640.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 580,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 9237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455*",
"transcript": "ENST00000518291.6",
"protein_id": "ENSP00000428921.1",
"transcript_support_level": 5,
"aa_start": 455,
"aa_end": null,
"aa_length": 580,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 9234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440*",
"transcript": "NM_001128172.2",
"protein_id": "NP_001121644.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 565,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 8639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Arg440*",
"transcript": "ENST00000519681.5",
"protein_id": "ENSP00000429113.1",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 565,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "NM_001128173.3",
"protein_id": "NP_001121645.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 9174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "NM_001324327.2",
"protein_id": "NP_001311256.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "NM_001324328.2",
"protein_id": "NP_001311257.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 8956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "NM_001324329.2",
"protein_id": "NP_001311258.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
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"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 9171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "NM_001324333.2",
"protein_id": "NP_001311262.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434*",
"transcript": "ENST00000372010.5",
"protein_id": "ENSP00000361080.1",
"transcript_support_level": 5,
"aa_start": 434,
"aa_end": null,
"aa_length": 559,
"cds_start": 1300,
"cds_end": null,
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"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001128166.3",
"protein_id": "NP_001121638.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 8881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001128167.3",
"protein_id": "NP_001121639.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 8808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001324325.2",
"protein_id": "NP_001311254.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
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"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 8959,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001324326.2",
"protein_id": "NP_001311255.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 8911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001324330.2",
"protein_id": "NP_001311259.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
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"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 8956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001324331.2",
"protein_id": "NP_001311260.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 544,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 8978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK3",
"gene_hgnc_id": 8592,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Arg419*",
"transcript": "NM_001324332.2",
"protein_id": "NP_001311261.1",
"transcript_support_level": null,
"aa_start": 419,
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}