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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: 15-40662192-C-CAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40662192&ref=C&alt=CAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "KNL1",
"hgnc_id": 24054,
"hgvs_c": "c.*4_*5insAT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_170589.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS1",
"acmg_score": -6,
"allele_count_reference_population": 390,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "KNL1-related disorder,not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9266,
"cdna_start": null,
"cds_end": null,
"cds_length": 6951,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_144508.5",
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"hgvs_c": "c.*4_*5insAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399668.7",
"protein_coding": true,
"protein_id": "NP_653091.3",
"strand": true,
"transcript": "NM_144508.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9266,
"cdna_start": null,
"cds_end": null,
"cds_length": 6951,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000399668.7",
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"hgvs_c": "c.*4_*5insAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144508.5",
"protein_coding": true,
"protein_id": "ENSP00000382576.3",
"strand": true,
"transcript": "ENST00000399668.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9573,
"cdna_start": null,
"cds_end": null,
"cds_length": 7029,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000346991.9",
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"hgvs_c": "c.*4_*5insAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335463.6",
"strand": true,
"transcript": "ENST00000346991.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000526913.5",
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"hgvs_c": "n.*4_*5insAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432565.1",
"strand": true,
"transcript": "ENST00000526913.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000526913.5",
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"hgvs_c": "n.*4_*5insAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432565.1",
"strand": true,
"transcript": "ENST00000526913.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9344,
"cdna_start": null,
"cds_end": null,
"cds_length": 7029,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_170589.5",
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"hgvs_c": "c.*4_*5insAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_733468.3",
"strand": true,
"transcript": "NM_170589.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs538937570",
"effect": "3_prime_UTR_variant",
"frequency_reference_population": 0.00026410955,
"gene_hgnc_id": 24054,
"gene_symbol": "KNL1",
"gnomad_exomes_ac": 188,
"gnomad_exomes_af": 0.00014195,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 202,
"gnomad_genomes_af": 0.00132677,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|KNL1-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.503,
"pos": 40662192,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_170589.5"
}
]
}