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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: 12-98796594-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98796594&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98796594,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000683438.2",
"consequences": [
{
"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": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3342+2340G>A",
"hgvs_p": null,
"transcript": "NM_001352186.2",
"protein_id": "NP_001339115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": "ENST00000683438.2",
"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": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3342+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000683438.2",
"protein_id": "ENSP00000508105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": "NM_001352186.2",
"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": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.3267+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000547776.6",
"protein_id": "ENSP00000449629.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"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": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1815+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000547010.5",
"protein_id": "ENSP00000448512.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1080+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000550778.5",
"protein_id": "ENSP00000448744.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.1017+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000549493.6",
"protein_id": "ENSP00000448203.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.945+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000546960.5",
"protein_id": "ENSP00000447839.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 460,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.837+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000550693.6",
"protein_id": "ENSP00000447999.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"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,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANKS1B",
"gene_hgnc_id": 24600,
"hgvs_c": "c.765+2340G>A",
"hgvs_p": null,
"transcript": "ENST00000546568.5",
"protein_id": "ENSP00000448205.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": -4,
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},
{
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],
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"gene_symbol": "ANKS1B",
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"hgvs_c": "c.765+2340G>A",
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"transcript": "ENST00000549558.6",
"protein_id": "ENSP00000448993.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "ANKS1B",
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"hgvs_c": "c.561+2340G>A",
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"transcript": "ENST00000549025.6",
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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": "ANKS1B",
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"hgvs_c": "c.1020+2340G>A",
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},
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],
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"gene_symbol": "ANKS1B",
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