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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: 8-142875277-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142875277&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 142875277,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000292427.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Glu",
"transcript": "NM_000497.4",
"protein_id": "NP_000488.3",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 503,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "ENST00000292427.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Glu",
"transcript": "ENST00000292427.10",
"protein_id": "ENSP00000292427.5",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 503,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "NM_000497.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1370C>A",
"hgvs_p": "p.Ala457Glu",
"transcript": "ENST00000377675.3",
"protein_id": "ENSP00000366903.3",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 574,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Glu",
"transcript": "ENST00000517471.5",
"protein_id": "ENSP00000428043.1",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 437,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 1874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Ala64Glu",
"transcript": "ENST00000519285.5",
"protein_id": "ENSP00000430144.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 181,
"cds_start": 191,
"cds_end": null,
"cds_length": 546,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Glu",
"transcript": "NM_001026213.1",
"protein_id": "NP_001021384.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 437,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "n.1552C>A",
"hgvs_p": null,
"transcript": "ENST00000314111.4",
"protein_id": null,
"transcript_support_level": 5,
"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": 3726,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GML",
"gene_hgnc_id": 4375,
"hgvs_c": "c.181+34052G>T",
"hgvs_p": null,
"transcript": "ENST00000522728.5",
"protein_id": "ENSP00000430799.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": -4,
"cds_end": null,
"cds_length": 355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"dbsnp": "rs4541",
"frequency_reference_population": 0.000021909435,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000219094,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35089635848999023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.5516,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.42,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000292427.10",
"gene_symbol": "CYP11B1",
"hgnc_id": 2591,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1157C>A",
"hgvs_p": "p.Ala386Glu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000522728.5",
"gene_symbol": "GML",
"hgnc_id": 4375,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.181+34052G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Deficiency of steroid 11-beta-monooxygenase",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Deficiency of steroid 11-beta-monooxygenase",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}