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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: 6-159214983-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159214983&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 159214983,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032532.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "NM_032532.3",
"protein_id": "NP_115921.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1894,
"cds_start": 499,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297267.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032532.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp",
"transcript": "ENST00000297267.14",
"protein_id": "ENSP00000297267.9",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1894,
"cds_start": 499,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032532.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297267.14"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Arg125Trp",
"transcript": "ENST00000329629.8",
"protein_id": "ENSP00000333297.8",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 1789,
"cds_start": 373,
"cds_end": null,
"cds_length": 5370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329629.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50Trp",
"transcript": "ENST00000906655.1",
"protein_id": "ENSP00000576714.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1777,
"cds_start": 148,
"cds_end": null,
"cds_length": 5334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906655.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50Trp",
"transcript": "ENST00000906656.1",
"protein_id": "ENSP00000576715.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1713,
"cds_start": 148,
"cds_end": null,
"cds_length": 5142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906656.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"transcript": "XM_011536190.3",
"protein_id": "XP_011534492.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1871,
"cds_start": 430,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536190.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50Trp",
"transcript": "XM_011536191.3",
"protein_id": "XP_011534493.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1777,
"cds_start": 148,
"cds_end": null,
"cds_length": 5334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536191.3"
}
],
"gene_symbol": "FNDC1",
"gene_hgnc_id": 21184,
"dbsnp": "rs762962324",
"frequency_reference_population": 0.000021067528,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000212086,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.558182954788208,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.2994,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.651,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"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": "NM_032532.3",
"gene_symbol": "FNDC1",
"hgnc_id": 21184,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.499C>T",
"hgvs_p": "p.Arg167Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}