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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: 12-28381482-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=28381482&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 28381482,
"ref": "G",
"alt": "T",
"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": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"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": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"hgvs_p": null,
"transcript": "ENST00000381259.5",
"protein_id": "ENSP00000370658.1",
"transcript_support_level": 1,
"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": 2334,
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "n.747-9822G>T",
"hgvs_p": null,
"transcript": "ENST00000540401.5",
"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,
"cdna_end": null,
"cdna_length": 1439,
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "n.655-9822G>T",
"hgvs_p": null,
"transcript": "ENST00000543809.5",
"protein_id": "ENSP00000441651.1",
"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,
"cdna_end": null,
"cdna_length": 1667,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "n.1146-9822G>T",
"hgvs_p": null,
"transcript": "ENST00000545737.5",
"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,
"cdna_end": null,
"cdna_length": 1578,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"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,
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"cds_length": 1326,
"cdna_start": null,
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"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": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"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
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
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"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "c.655-9822G>T",
"hgvs_p": null,
"transcript": "NM_001352081.2",
"protein_id": "NP_001339010.1",
"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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"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": 16,
"intron_rank": 10,
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.655-9822G>T",
"hgvs_p": null,
"transcript": "NM_001387000.1",
"protein_id": "NP_001373929.1",
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},
{
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],
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"exon_count": 16,
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.655-9822G>T",
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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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},
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],
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "CCDC91",
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],
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"gene_symbol": "CCDC91",
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},
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],
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"intron_rank": 7,
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"gene_symbol": "CCDC91",
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"hgvs_c": "c.654+18967G>T",
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"transcript": "ENST00000539107.5",
"protein_id": "ENSP00000440513.1",
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 5,
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"hgvs_c": "c.169-9822G>T",
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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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"intron_rank": 9,
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"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "n.*573-9822G>T",
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"transcript": "ENST00000535520.5",
"protein_id": "ENSP00000438558.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC91",
"gene_hgnc_id": 24855,
"hgvs_c": "n.783-9822G>T",
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"transcript": "ENST00000539904.1",
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},
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
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}
],
"gene_symbol": "CCDC91",
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"dbsnp": "rs2638953",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000263387,
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"gnomad_genomes_ac": 4,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.927,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000536442.6",
"gene_symbol": "CCDC91",
"hgnc_id": 24855,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.655-9822G>T",
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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
}