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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: 1-167809606-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167809606&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 167809606,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000367851.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "NM_018417.6",
"protein_id": "NP_060887.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": "ENST00000367851.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "ENST00000367851.9",
"protein_id": "ENSP00000356825.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": "NM_018417.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "NM_001297772.2",
"protein_id": "NP_001284701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": -4,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "NM_001167749.3",
"protein_id": "NP_001161221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": -4,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "ENST00000545172.5",
"protein_id": "ENSP00000441992.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": -4,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "XM_011509760.4",
"protein_id": "XP_011508062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1610,
"cds_start": -4,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "XM_011509762.4",
"protein_id": "XP_011508064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1562,
"cds_start": -4,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "XM_011509763.4",
"protein_id": "XP_011508065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1556,
"cds_start": -4,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "XM_006711449.5",
"protein_id": "XP_006711512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1547,
"cds_start": -4,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "c.*72C>T",
"hgvs_p": null,
"transcript": "ENST00000367848.1",
"protein_id": "ENSP00000356822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1518,
"cds_start": -4,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"hgvs_c": "n.*1841C>T",
"hgvs_p": null,
"transcript": "ENST00000485964.5",
"protein_id": "ENSP00000476402.1",
"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": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADCY10",
"gene_hgnc_id": 21285,
"dbsnp": "rs3213588",
"frequency_reference_population": 0.41705313,
"hom_count_reference_population": 140724,
"allele_count_reference_population": 641562,
"gnomad_exomes_af": 0.408323,
"gnomad_genomes_af": 0.496621,
"gnomad_exomes_ac": 566029,
"gnomad_genomes_ac": 75533,
"gnomad_exomes_homalt": 119857,
"gnomad_genomes_homalt": 20867,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.045,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367851.9",
"gene_symbol": "ADCY10",
"hgnc_id": 21285,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*72C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}