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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: 8-22046599-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22046599&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22046599,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000359441.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Ile108Thr",
"transcript": "NM_003867.4",
"protein_id": "NP_003858.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 216,
"cds_start": 323,
"cds_end": null,
"cds_length": 651,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": "ENST00000359441.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Ile108Thr",
"transcript": "ENST00000359441.4",
"protein_id": "ENSP00000352414.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 216,
"cds_start": 323,
"cds_end": null,
"cds_length": 651,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": "NM_003867.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000518533.5",
"protein_id": "ENSP00000431041.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 205,
"cds_start": 290,
"cds_end": null,
"cds_length": 618,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "NM_001304478.1",
"protein_id": "NP_001291407.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 205,
"cds_start": 290,
"cds_end": null,
"cds_length": 618,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.392T>C",
"hgvs_p": "p.Ile131Thr",
"transcript": "XM_005273675.2",
"protein_id": "XP_005273732.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 239,
"cds_start": 392,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Ile124Thr",
"transcript": "XM_011544683.2",
"protein_id": "XP_011542985.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 232,
"cds_start": 371,
"cds_end": null,
"cds_length": 699,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Ile124Thr",
"transcript": "XM_011544684.2",
"protein_id": "XP_011542986.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 232,
"cds_start": 371,
"cds_end": null,
"cds_length": 699,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Ile113Thr",
"transcript": "XM_011544685.2",
"protein_id": "XP_011542987.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 221,
"cds_start": 338,
"cds_end": null,
"cds_length": 666,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "n.1693T>C",
"hgvs_p": null,
"transcript": "ENST00000524314.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"hgvs_c": "n.595+308T>C",
"hgvs_p": null,
"transcript": "ENST00000521709.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FGF17",
"gene_hgnc_id": 3673,
"dbsnp": "rs398123024",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9520040154457092,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.951,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000359441.4",
"gene_symbol": "FGF17",
"hgnc_id": 3673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Ile108Thr"
}
],
"clinvar_disease": "Hypogonadotropic hypogonadism 20 with or without anosmia",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hypogonadotropic hypogonadism 20 with or without anosmia",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}