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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: 12-28253582-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=28253582&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 28253582,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000536442.6",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-14-3620T>A",
"hgvs_p": null,
"transcript": "NM_018318.5",
"protein_id": "NP_060788.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": "ENST00000536442.6",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-14-3620T>A",
"hgvs_p": null,
"transcript": "ENST00000536442.6",
"protein_id": "ENSP00000445660.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": "NM_018318.5",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-96-1999T>A",
"hgvs_p": null,
"transcript": "NM_001352078.2",
"protein_id": "NP_001339007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2601,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-96-1999T>A",
"hgvs_p": null,
"transcript": "NM_001352079.2",
"protein_id": "NP_001339008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2715,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-14-3620T>A",
"hgvs_p": null,
"transcript": "NM_001352080.2",
"protein_id": "NP_001339009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2591,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-14-3620T>A",
"hgvs_p": null,
"transcript": "NM_001352081.2",
"protein_id": "NP_001339010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2586,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-96-1999T>A",
"hgvs_p": null,
"transcript": "NM_001387000.1",
"protein_id": "NP_001373929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
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"cds_length": 1326,
"cdna_start": null,
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"cdna_length": 2728,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-96-1999T>A",
"hgvs_p": null,
"transcript": "ENST00000545336.5",
"protein_id": "ENSP00000438040.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2738,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-14-3620T>A",
"hgvs_p": null,
"transcript": "NM_001352082.2",
"protein_id": "NP_001339011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
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"cdna_length": 2559,
"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,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.-14-3620T>A",
"hgvs_p": null,
"transcript": "NM_001352083.2",
"protein_id": "NP_001339012.1",
"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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"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": 12,
"intron_rank": 1,
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.-14-3620T>A",
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"transcript": "NM_001352084.2",
"protein_id": "NP_001339013.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "CCDC91",
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},
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],
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.-14-3620T>A",
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},
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],
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"gene_symbol": "CCDC91",
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},
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],
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.-19+27721T>A",
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},
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],
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.42+69743T>A",
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"transcript": "ENST00000540794.5",
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},
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],
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.-96-1999T>A",
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"transcript": "ENST00000543534.5",
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},
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.-14-3620T>A",
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},
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],
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},
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],
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},
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],
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"gene_symbol": "CCDC91",
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"hgvs_c": "n.418-1980T>A",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.-14-3620T>A",
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},
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