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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: 11-116790814-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116790814&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116790814,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000227665.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*",
"transcript": "NM_001371904.1",
"protein_id": "NP_001358833.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 415,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": "ENST00000227665.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*",
"transcript": "ENST00000227665.9",
"protein_id": "ENSP00000227665.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 415,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": "NM_001371904.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*",
"transcript": "ENST00000433069.2",
"protein_id": "ENSP00000399701.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 415,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Gln167*",
"transcript": "ENST00000673688.1",
"protein_id": "ENSP00000501141.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 394,
"cds_start": 499,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*",
"transcript": "NM_001166598.2",
"protein_id": "NP_001160070.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 415,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*",
"transcript": "NM_052968.5",
"protein_id": "NP_443200.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 415,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*",
"transcript": "ENST00000542499.5",
"protein_id": "ENSP00000445002.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 366,
"cds_start": 415,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOA5",
"gene_hgnc_id": 17288,
"dbsnp": "rs121917821",
"frequency_reference_population": 0.0000020527502,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205275,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5099999904632568,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.697,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000227665.9",
"gene_symbol": "APOA5",
"hgnc_id": 17288,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Gln139*"
}
],
"clinvar_disease": "Familial type 5 hyperlipoproteinemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Familial type 5 hyperlipoproteinemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}