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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: 6-12059721-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12059721&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 12059721,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000379388.7",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.41-29463G>T",
"hgvs_p": null,
"transcript": "NM_002114.4",
"protein_id": "NP_002105.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2718,
"cds_start": -4,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9053,
"mane_select": "ENST00000379388.7",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.41-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000379388.7",
"protein_id": "ENSP00000368698.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2718,
"cds_start": -4,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9053,
"mane_select": "NM_002114.4",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.41-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000478545.2",
"protein_id": "ENSP00000418021.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 2718,
"cds_start": -4,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8886,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.41-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000487103.6",
"protein_id": "ENSP00000417348.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2718,
"cds_start": -4,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8853,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.41-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000491710.6",
"protein_id": "ENSP00000419762.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 2718,
"cds_start": -4,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8912,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.41-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000627968.3",
"protein_id": "ENSP00000486543.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2684,
"cds_start": -4,
"cds_end": null,
"cds_length": 8055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8924,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.-567+8253G>T",
"hgvs_p": null,
"transcript": "ENST00000714232.1",
"protein_id": "ENSP00000519513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2516,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8942,
"mane_select": null,
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"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "c.68-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000442081.7",
"protein_id": "ENSP00000409078.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2799,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIVEP1",
"gene_hgnc_id": 4920,
"hgvs_c": "n.41-29463G>T",
"hgvs_p": null,
"transcript": "ENST00000399469.3",
"protein_id": "ENSP00000382395.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 8035,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "HIVEP1",
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"hgvs_c": "c.68-29463G>T",
"hgvs_p": null,
"transcript": "XM_011514548.3",
"protein_id": "XP_011512850.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "HIVEP1",
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"hgvs_c": "c.41-29463G>T",
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"transcript": "XM_011514552.3",
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},
{
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],
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},
{
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],
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"gene_symbol": "HIVEP1",
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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": "HIVEP1",
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],
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},
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],
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"gene_symbol": "HIVEP1",
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"hgvs_c": "n.991-29463G>T",
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{
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},
{
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000379388.7",
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"effects": [
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}