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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: 11-118082245-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118082245&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118082245,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000437212.8",
"consequences": [
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "NM_019894.4",
"protein_id": "NP_063947.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": "ENST00000437212.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000437212.8",
"protein_id": "ENSP00000416037.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": "NM_019894.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMIM35",
"gene_hgnc_id": 44179,
"hgvs_c": "c.7+4506T>C",
"hgvs_p": null,
"transcript": "NM_001394165.1",
"protein_id": "NP_001381094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": "ENST00000689828.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMIM35",
"gene_hgnc_id": 44179,
"hgvs_c": "c.7+4506T>C",
"hgvs_p": null,
"transcript": "ENST00000689828.1",
"protein_id": "ENSP00000509259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": "NM_001394165.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000522824.5",
"protein_id": "ENSP00000430547.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.268+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000519126.1",
"protein_id": null,
"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": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMIM35",
"gene_hgnc_id": 44179,
"hgvs_c": "n.43+4506T>C",
"hgvs_p": null,
"transcript": "ENST00000527329.5",
"protein_id": null,
"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": 304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMIM35",
"gene_hgnc_id": 44179,
"hgvs_c": "n.43+4506T>C",
"hgvs_p": null,
"transcript": "ENST00000527695.1",
"protein_id": null,
"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": 233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMIM35",
"gene_hgnc_id": 44179,
"hgvs_c": "n.43+4506T>C",
"hgvs_p": null,
"transcript": "ENST00000606951.5",
"protein_id": null,
"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": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.3+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000714375.1",
"protein_id": "ENSP00000519642.1",
"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": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "n.3+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000714378.1",
"protein_id": "ENSP00000519645.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2206,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "NM_001173551.2",
"protein_id": "NP_001167022.2",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
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"transcript": "ENST00000534111.5",
"protein_id": "ENSP00000435184.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "NM_001083947.2",
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},
{
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],
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"gene_symbol": "TMPRSS4",
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"hgvs_c": "c.-77+4940A>G",
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"transcript": "NM_001290094.2",
"protein_id": "NP_001277023.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
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"transcript": "ENST00000616579.4",
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},
{
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],
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"gene_symbol": "TMPRSS4",
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"hgvs_c": "c.3+4940A>G",
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"transcript": "NM_001173552.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000523251.5",
"protein_id": "ENSP00000429209.1",
"transcript_support_level": 2,
"aa_start": null,
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "TMPRSS4",
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"hgvs_c": "c.3+4940A>G",
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"transcript": "ENST00000522151.6",
"protein_id": "ENSP00000428407.2",
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},
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],
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"gene_symbol": "TMPRSS4",
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"transcript": "NM_001290096.2",
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},
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],
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"gene_symbol": "TMPRSS4",
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"hgvs_c": "c.-354+4940A>G",
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"transcript": "ENST00000522307.5",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMPRSS4",
"gene_hgnc_id": 11878,
"hgvs_c": "c.3+4940A>G",
"hgvs_p": null,
"transcript": "ENST00000517544.2",
"protein_id": "ENSP00000429833.2",
"transcript_support_level": 3,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMIM35",
"gene_hgnc_id": 44179,
"hgvs_c": "c.-31+4506T>C",
"hgvs_p": null,
"transcript": "NM_001354434.2",
"protein_id": "NP_001341363.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
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