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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: 8-22073976-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22073976&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22073976,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000358242.6",
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001387751.1",
"protein_id": "NP_001374680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": "ENST00000358242.6",
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "ENST00000358242.6",
"protein_id": "ENSP00000350977.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": "NM_001387751.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001114135.5",
"protein_id": "NP_001107607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001114136.3",
"protein_id": "NP_001107608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001323378.2",
"protein_id": "NP_001310307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001323379.2",
"protein_id": "NP_001310308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001323380.2",
"protein_id": "NP_001310309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001323381.2",
"protein_id": "NP_001310310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001323382.2",
"protein_id": "NP_001310311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001387727.1",
"protein_id": "NP_001374656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
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"cdna_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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001387730.1",
"protein_id": "NP_001374659.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 10,
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"gene_symbol": "DMTN",
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"hgvs_c": "c.835+141A>C",
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"transcript": "NM_001387732.1",
"protein_id": "NP_001374661.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "NM_001387735.1",
"protein_id": "NP_001374664.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
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"transcript": "NM_001387750.1",
"protein_id": "NP_001374679.1",
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},
{
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],
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"gene_symbol": "DMTN",
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"transcript": "NM_001387753.1",
"protein_id": "NP_001374682.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
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"transcript": "NM_001978.5",
"protein_id": "NP_001969.2",
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},
{
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],
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"gene_symbol": "DMTN",
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"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "ENST00000265800.9",
"protein_id": "ENSP00000265800.5",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "ENST00000432128.6",
"protein_id": "ENSP00000416111.1",
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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": 16,
"intron_rank": 10,
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"gene_symbol": "DMTN",
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"hgvs_c": "c.835+141A>C",
"hgvs_p": null,
"transcript": "ENST00000517305.5",
"protein_id": "ENSP00000430609.2",
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},
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],
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"gene_symbol": "DMTN",
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"hgvs_c": "c.835+141A>C",
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"transcript": "ENST00000523266.5",
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},
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],
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"gene_symbol": "DMTN",
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"transcript": "NM_001323389.2",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.790+141A>C",
"hgvs_p": null,
"transcript": "NM_001323390.2",
"protein_id": "NP_001310319.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "DMTN",
"gene_hgnc_id": 3382,
"hgvs_c": "c.790+141A>C",
"hgvs_p": null,
"transcript": "NM_001387743.1",
"protein_id": "NP_001374672.1",
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}
],
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}