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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: 17-7846859-T-TACCACCACCACCACCACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7846859&ref=T&alt=TACCACCACCACCACCACC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7846859,
"ref": "T",
"alt": "TACCACCACCACCACCACC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000448097.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PPPPPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6B",
"gene_hgnc_id": 29012,
"hgvs_c": "c.774_791dupACCACCACCACCACCACC",
"hgvs_p": "p.Pro259_Pro264dup",
"transcript": "NM_001348716.2",
"protein_id": "NP_001335645.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1643,
"cds_start": 792,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": "ENST00000448097.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPPPPP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6B",
"gene_hgnc_id": 29012,
"hgvs_c": "c.774_791dupACCACCACCACCACCACC",
"hgvs_p": "p.Pro259_Pro264dup",
"transcript": "ENST00000448097.7",
"protein_id": "ENSP00000412513.2",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 1643,
"cds_start": 792,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": "NM_001348716.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPPPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6B",
"gene_hgnc_id": 29012,
"hgvs_c": "c.774_791dupACCACCACCACCACCACC",
"hgvs_p": "p.Pro259_Pro264dup",
"transcript": "ENST00000254846.9",
"protein_id": "ENSP00000254846.5",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 1682,
"cds_start": 792,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PPPPPPP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM6B",
"gene_hgnc_id": 29012,
"hgvs_c": "c.774_791dupACCACCACCACCACCACC",
"hgvs_p": "p.Pro259_Pro264dup",
"transcript": "NM_001080424.2",
"protein_id": "NP_001073893.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1682,
"cds_start": 792,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KDM6B",
"gene_hgnc_id": 29012,
"hgvs_c": "c.711+141_711+158dupACCACCACCACCACCACC",
"hgvs_p": null,
"transcript": "ENST00000570632.1",
"protein_id": "ENSP00000458445.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KDM6B",
"gene_hgnc_id": 29012,
"dbsnp": "rs61462443",
"frequency_reference_population": 0.0000822501,
"hom_count_reference_population": 0,
"allele_count_reference_population": 100,
"gnomad_exomes_af": 0.0000783592,
"gnomad_genomes_af": 0.000118349,
"gnomad_exomes_ac": 86,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.25,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "ENST00000448097.7",
"gene_symbol": "KDM6B",
"hgnc_id": 29012,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.774_791dupACCACCACCACCACCACC",
"hgvs_p": "p.Pro259_Pro264dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}