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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: 1-16022691-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16022691&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16022691,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_004070.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs",
"transcript": "NM_004070.4",
"protein_id": "NP_004061.3",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 687,
"cds_start": 73,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": "ENST00000331433.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs",
"transcript": "ENST00000331433.5",
"protein_id": "ENSP00000332771.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 687,
"cds_start": 73,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": "NM_004070.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs",
"transcript": "ENST00000375692.5",
"protein_id": "ENSP00000364844.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 686,
"cds_start": 73,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs",
"transcript": "NM_001042704.2",
"protein_id": "NP_001036169.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 686,
"cds_start": 73,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs",
"transcript": "NM_001257139.2",
"protein_id": "NP_001244068.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 644,
"cds_start": 73,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs",
"transcript": "ENST00000439316.6",
"protein_id": "ENSP00000414445.2",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 644,
"cds_start": 73,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "n.732delT",
"hgvs_p": null,
"transcript": "ENST00000464764.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "n.231delT",
"hgvs_p": null,
"transcript": "ENST00000495784.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"dbsnp": "rs1557446844",
"frequency_reference_population": 0.0000019319266,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000142785,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"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": 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": 0.573,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004070.4",
"gene_symbol": "CLCNKA",
"hgnc_id": 2026,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.73delT",
"hgvs_p": "p.Cys25fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}