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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: 13-97985663-CTTTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=97985663&ref=CTTTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 97985663,
"ref": "CTTTTT",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000651721.2",
"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": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.364+60_364+64delTTTTT",
"hgvs_p": null,
"transcript": "NM_002271.6",
"protein_id": "NP_002262.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": "ENST00000651721.2",
"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": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.364+51_364+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000651721.2",
"protein_id": "ENSP00000499125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": "NM_002271.6",
"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": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.418+51_418+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000261574.10",
"protein_id": "ENSP00000261574.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6001,
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.364+51_364+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000490680.5",
"protein_id": "ENSP00000418393.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3419,
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.367+51_367+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000469360.5",
"protein_id": "ENSP00000419764.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"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": 29,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.364+51_364+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000357602.7",
"protein_id": "ENSP00000350219.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": 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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.364+51_364+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000475420.5",
"protein_id": "ENSP00000420079.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 169,
"cds_start": -4,
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"cds_length": 512,
"cdna_start": null,
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"cdna_length": 883,
"mane_select": null,
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"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "c.184+51_184+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000403772.8",
"protein_id": "ENSP00000385938.4",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": -4,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IPO5",
"gene_hgnc_id": 6402,
"hgvs_c": "n.348+51_348+55delTTTTT",
"hgvs_p": null,
"transcript": "ENST00000473582.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "IPO5",
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"hgvs_c": "n.*342+51_*342+55delTTTTT",
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"transcript": "ENST00000480641.2",
"protein_id": "ENSP00000419003.2",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "IPO5",
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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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],
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],
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"protein_id": "XP_047286256.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "IPO5",
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"hgvs_c": "c.*42_*46delTTTTT",
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"transcript": "ENST00000460070.6",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}