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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: 4-154586506-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=154586506&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 154586506,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000403106.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGA",
"gene_hgnc_id": 3661,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro",
"transcript": "NM_021871.4",
"protein_id": "NP_068657.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 644,
"cds_start": 923,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": "ENST00000403106.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGA",
"gene_hgnc_id": 3661,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro",
"transcript": "ENST00000403106.8",
"protein_id": "ENSP00000385981.3",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 644,
"cds_start": 923,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": "NM_021871.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGA",
"gene_hgnc_id": 3661,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro",
"transcript": "NM_000508.5",
"protein_id": "NP_000499.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 866,
"cds_start": 923,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGA",
"gene_hgnc_id": 3661,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro",
"transcript": "ENST00000651975.2",
"protein_id": "ENSP00000498441.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 866,
"cds_start": 923,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306549",
"gene_hgnc_id": null,
"hgvs_c": "n.-122C>G",
"hgvs_p": null,
"transcript": "ENST00000819308.1",
"protein_id": null,
"transcript_support_level": null,
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGA",
"gene_hgnc_id": 3661,
"dbsnp": "rs760992799",
"frequency_reference_population": 6.8415363e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84154e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10278788208961487,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.1775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.058,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000403106.8",
"gene_symbol": "FGA",
"hgnc_id": 3661,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000819308.1",
"gene_symbol": "ENSG00000306549",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-122C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}