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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: 11-59125386-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59125386&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 59125386,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000343597.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1289A>C",
"hgvs_p": "p.Gln430Pro",
"transcript": "NM_198947.4",
"protein_id": "NP_945185.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 734,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": "ENST00000343597.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1289A>C",
"hgvs_p": "p.Gln430Pro",
"transcript": "ENST00000343597.4",
"protein_id": "ENSP00000341565.3",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 734,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": "NM_198947.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Gln400Pro",
"transcript": "ENST00000529618.5",
"protein_id": "ENSP00000432875.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 704,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1289A>C",
"hgvs_p": "p.Gln430Pro",
"transcript": "ENST00000620384.1",
"protein_id": "ENSP00000483456.1",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 734,
"cds_start": 1289,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Gln400Pro",
"transcript": "NM_001142703.2",
"protein_id": "NP_001136175.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 704,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Gln400Pro",
"transcript": "NM_001142704.2",
"protein_id": "NP_001136176.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 704,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Gln400Pro",
"transcript": "ENST00000411426.1",
"protein_id": "ENSP00000393855.1",
"transcript_support_level": 4,
"aa_start": 400,
"aa_end": null,
"aa_length": 704,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"dbsnp": "rs551644836",
"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": 0.3710164427757263,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.5457,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.305,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000343597.4",
"gene_symbol": "FAM111B",
"hgnc_id": 24200,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1289A>C",
"hgvs_p": "p.Gln430Pro"
}
],
"clinvar_disease": "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}