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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: 11-59125357-AAAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59125357&ref=AAAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 59125357,
"ref": "AAAG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_198947.4",
"consequences": [
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1262_1264delAGA",
"hgvs_p": "p.Lys421del",
"transcript": "NM_198947.4",
"protein_id": "NP_945185.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 734,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343597.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198947.4"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1262_1264delAGA",
"hgvs_p": "p.Lys421del",
"transcript": "ENST00000343597.4",
"protein_id": "ENSP00000341565.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 734,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198947.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343597.4"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1172_1174delAGA",
"hgvs_p": "p.Lys391del",
"transcript": "ENST00000529618.5",
"protein_id": "ENSP00000432875.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529618.5"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1262_1264delAGA",
"hgvs_p": "p.Lys421del",
"transcript": "ENST00000620384.1",
"protein_id": "ENSP00000483456.1",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 734,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620384.1"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1262_1264delAGA",
"hgvs_p": "p.Lys421del",
"transcript": "ENST00000935978.1",
"protein_id": "ENSP00000606037.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 734,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935978.1"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1172_1174delAGA",
"hgvs_p": "p.Lys391del",
"transcript": "NM_001142703.2",
"protein_id": "NP_001136175.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142703.2"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1172_1174delAGA",
"hgvs_p": "p.Lys391del",
"transcript": "NM_001142704.2",
"protein_id": "NP_001136176.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142704.2"
},
{
"aa_ref": "KR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1172_1174delAGA",
"hgvs_p": "p.Lys391del",
"transcript": "ENST00000411426.1",
"protein_id": "ENSP00000393855.1",
"transcript_support_level": 4,
"aa_start": 391,
"aa_end": null,
"aa_length": 704,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411426.1"
}
],
"gene_symbol": "FAM111B",
"gene_hgnc_id": 24200,
"dbsnp": "rs886039851",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.458,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198947.4",
"gene_symbol": "FAM111B",
"hgnc_id": 24200,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1262_1264delAGA",
"hgvs_p": "p.Lys421del"
}
],
"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
}