← Back to variant description
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: 17-43953375-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43953375&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43953375,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001394028.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PYY",
"gene_hgnc_id": 9748,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001394028.1",
"protein_id": "NP_001380957.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 97,
"cds_start": 109,
"cds_end": null,
"cds_length": 294,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "ENST00000692052.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"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": "PYY",
"gene_hgnc_id": 9748,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000692052.1",
"protein_id": "ENSP00000509262.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 97,
"cds_start": 109,
"cds_end": null,
"cds_length": 294,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "NM_001394028.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYY",
"gene_hgnc_id": 9748,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000360085.6",
"protein_id": "ENSP00000353198.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 97,
"cds_start": 109,
"cds_end": null,
"cds_length": 294,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYY",
"gene_hgnc_id": 9748,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000592796.2",
"protein_id": "ENSP00000467310.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 90,
"cds_start": 109,
"cds_end": null,
"cds_length": 273,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYY",
"gene_hgnc_id": 9748,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_004160.6",
"protein_id": "NP_004151.4",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 97,
"cds_start": 109,
"cds_end": null,
"cds_length": 294,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYY",
"gene_hgnc_id": 9748,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "NM_001394029.1",
"protein_id": "NP_001380958.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 90,
"cds_start": 109,
"cds_end": null,
"cds_length": 273,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PYY",
"gene_hgnc_id": 9748,
"dbsnp": "rs229969",
"frequency_reference_population": 0.99999505,
"hom_count_reference_population": 806224,
"allele_count_reference_population": 1612456,
"gnomad_exomes_af": 0.999995,
"gnomad_genomes_af": 0.999993,
"gnomad_exomes_ac": 1460171,
"gnomad_genomes_ac": 152285,
"gnomad_exomes_homalt": 730082,
"gnomad_genomes_homalt": 76142,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.576001965186151e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0359,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.238,
"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": -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": "NM_001394028.1",
"gene_symbol": "PYY",
"hgnc_id": 9748,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly"
}
],
"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
}