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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: 11-124637051-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124637051&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124637051,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_170601.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Gln491Arg",
"transcript": "NM_170601.5",
"protein_id": "NP_733746.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 523,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": "ENST00000263593.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Gln491Arg",
"transcript": "ENST00000263593.8",
"protein_id": "ENSP00000263593.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 523,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": "NM_170601.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Gln456Arg",
"transcript": "ENST00000618733.4",
"protein_id": "ENSP00000478211.1",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 488,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Gln456Arg",
"transcript": "NM_001199922.2",
"protein_id": "NP_001186851.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 488,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Gln456Arg",
"transcript": "ENST00000545756.5",
"protein_id": "ENSP00000437877.1",
"transcript_support_level": 5,
"aa_start": 456,
"aa_end": null,
"aa_length": 488,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Gln300Arg",
"transcript": "XM_047427132.1",
"protein_id": "XP_047283088.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 332,
"cds_start": 899,
"cds_end": null,
"cds_length": 999,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 7540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"dbsnp": "rs200855729",
"frequency_reference_population": 0.000062576284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000547238,
"gnomad_genomes_af": 0.000138027,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01001235842704773,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.506,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_170601.5",
"gene_symbol": "SIAE",
"hgnc_id": 18187,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Gln491Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}