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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: 16-53291161-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53291161&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53291161,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000447540.6",
"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": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "NM_001308319.2",
"protein_id": "NP_001295248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": "ENST00000447540.6",
"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": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "ENST00000447540.6",
"protein_id": "ENSP00000396345.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": "NM_001308319.2",
"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": 38,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "ENST00000398510.7",
"protein_id": "ENSP00000381522.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"cds_start": -4,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11337,
"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": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "ENST00000564845.5",
"protein_id": "ENSP00000455307.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11504,
"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": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "ENST00000566029.5",
"protein_id": "ENSP00000457466.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13110,
"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": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "n.2785-564C>A",
"hgvs_p": null,
"transcript": "ENST00000219084.10",
"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,
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"cdna_length": 8739,
"mane_select": null,
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"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": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "NM_001382353.1",
"protein_id": "NP_001369282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2897,
"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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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "NM_001352127.3",
"protein_id": "NP_001339056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"cds_start": -4,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11459,
"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": 39,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.5248-564C>A",
"hgvs_p": null,
"transcript": "NM_025134.7",
"protein_id": "NP_079410.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2881,
"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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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 26,
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"gene_symbol": "CHD9",
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"hgvs_c": "c.3826-564C>A",
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"transcript": "NM_001352156.3",
"protein_id": "NP_001339085.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CHD9",
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"transcript": "ENST00000565803.2",
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],
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"gene_symbol": "CHD9",
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},
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"hgvs_c": "c.5248-564C>A",
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],
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],
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}