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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: 20-62307625-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62307625&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62307625,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000253003.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln",
"transcript": "NM_007002.4",
"protein_id": "NP_008933.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 407,
"cds_start": 653,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": "ENST00000253003.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln",
"transcript": "ENST00000253003.7",
"protein_id": "ENSP00000253003.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 407,
"cds_start": 653,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": "NM_007002.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln",
"transcript": "NM_175573.2",
"protein_id": "NP_783163.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 407,
"cds_start": 653,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln",
"transcript": "ENST00000491935.5",
"protein_id": "ENSP00000478877.1",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 407,
"cds_start": 653,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179Gln",
"transcript": "NM_001281437.1",
"protein_id": "NP_001268366.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 368,
"cds_start": 536,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179Gln",
"transcript": "NM_001281438.1",
"protein_id": "NP_001268367.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 368,
"cds_start": 536,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179Gln",
"transcript": "ENST00000620230.4",
"protein_id": "ENSP00000480756.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 368,
"cds_start": 536,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln",
"transcript": "XM_011528503.2",
"protein_id": "XP_011526805.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 369,
"cds_start": 653,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179Gln",
"transcript": "XM_047439841.1",
"protein_id": "XP_047295797.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 330,
"cds_start": 536,
"cds_end": null,
"cds_length": 993,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADRM1",
"gene_hgnc_id": 15759,
"dbsnp": "rs193921052",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6241479516029358,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.212,
"revel_prediction": "Benign",
"alphamissense_score": 0.1384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.239,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000253003.7",
"gene_symbol": "ADRM1",
"hgnc_id": 15759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.653C>A",
"hgvs_p": "p.Pro218Gln"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}