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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: 19-8510850-CCCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8510850&ref=CCCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8510850,
"ref": "CCCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG",
"alt": "C",
"effect": "disruptive_inframe_deletion,splice_region_variant",
"transcript": "NM_001146175.2",
"consequences": [
{
"aa_ref": "APAAGPPRPDAPAD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"hgvs_c": "c.1061_1099delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": "p.Ala354_Ala366del",
"transcript": "NM_001146175.2",
"protein_id": "NP_001139647.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 390,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": "ENST00000393927.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146175.2"
},
{
"aa_ref": "APAAGPPRPDAPAD",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"hgvs_c": "c.1061_1099delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": "p.Ala354_Ala366del",
"transcript": "ENST00000393927.9",
"protein_id": "ENSP00000377504.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 390,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": "NM_001146175.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393927.9"
},
{
"aa_ref": "APAAGPPRPDAPAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"hgvs_c": "c.269_307delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": "p.Ala90_Ala102del",
"transcript": "ENST00000596772.5",
"protein_id": "ENSP00000471378.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 119,
"cds_start": 269,
"cds_end": null,
"cds_length": 360,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596772.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"hgvs_c": "c.*89_*127delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": null,
"transcript": "ENST00000593661.5",
"protein_id": "ENSP00000473079.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593661.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"hgvs_c": "c.*107_*145delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": null,
"transcript": "ENST00000594748.5",
"protein_id": "ENSP00000471863.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594748.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"hgvs_c": "n.*89_*127delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": null,
"transcript": "ENST00000595348.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 368,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000595348.1"
}
],
"gene_symbol": "ZNF414",
"gene_hgnc_id": 20630,
"dbsnp": "rs768916342",
"frequency_reference_population": 0.005412023,
"hom_count_reference_population": 134,
"allele_count_reference_population": 6622,
"gnomad_exomes_af": 0.00579336,
"gnomad_genomes_af": 0.00266325,
"gnomad_exomes_ac": 6225,
"gnomad_genomes_ac": 397,
"gnomad_exomes_homalt": 131,
"gnomad_genomes_homalt": 3,
"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": 2.197,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001146175.2",
"gene_symbol": "ZNF414",
"hgnc_id": 20630,
"effects": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1061_1099delCCCCCGCGGCCGGGCCGCCGCGCCCCGACGCCCCCGCGG",
"hgvs_p": "p.Ala354_Ala366del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}