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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: 5-114362471-CCTGCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=114362471&ref=CCTGCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 114362471,
"ref": "CCTGCTG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001372233.1",
"consequences": [
{
"aa_ref": "CCS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.347_352delGCTGCT",
"hgvs_p": "p.Cys116_Cys117del",
"transcript": "NM_021614.4",
"protein_id": "NP_067627.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 791,
"cds_start": 347,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673685.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021614.4"
},
{
"aa_ref": "CCS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.347_352delGCTGCT",
"hgvs_p": "p.Cys116_Cys117del",
"transcript": "ENST00000673685.1",
"protein_id": "ENSP00000501239.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 791,
"cds_start": 347,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021614.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673685.1"
},
{
"aa_ref": "CCS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.545_550delGCTGCT",
"hgvs_p": "p.Cys182_Cys183del",
"transcript": "NM_001372233.1",
"protein_id": "NP_001359162.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 857,
"cds_start": 545,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372233.1"
},
{
"aa_ref": "CCS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.545_550delGCTGCT",
"hgvs_p": "p.Cys182_Cys183del",
"transcript": "ENST00000512097.10",
"protein_id": "ENSP00000427120.4",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 857,
"cds_start": 545,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512097.10"
},
{
"aa_ref": "CCS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.545_550delGCTGCT",
"hgvs_p": "p.Cys182_Cys183del",
"transcript": "XM_011543389.2",
"protein_id": "XP_011541691.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 857,
"cds_start": 545,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543389.2"
},
{
"aa_ref": "CCS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.515_520delGCTGCT",
"hgvs_p": "p.Cys172_Cys173del",
"transcript": "XM_047417166.1",
"protein_id": "XP_047273122.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 847,
"cds_start": 515,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "n.417_422delGCTGCT",
"hgvs_p": null,
"transcript": "NR_174097.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174097.1"
}
],
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"dbsnp": "rs567706065",
"frequency_reference_population": 0.00002927005,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000410866,
"gnomad_genomes_af": 0.00000657575,
"gnomad_exomes_ac": 12,
"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": 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": 1.768,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001372233.1",
"gene_symbol": "KCNN2",
"hgnc_id": 6291,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.545_550delGCTGCT",
"hgvs_p": "p.Cys182_Cys183del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}