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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: 13-69719493-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=69719493&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 69719493,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020866.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Ala631Thr",
"transcript": "NM_020866.3",
"protein_id": "NP_065917.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 748,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377844.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020866.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Ala631Thr",
"transcript": "ENST00000377844.9",
"protein_id": "ENSP00000367075.4",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 748,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020866.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377844.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Ala570Thr",
"transcript": "NM_001286725.2",
"protein_id": "NP_001273654.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 687,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286725.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Ala570Thr",
"transcript": "ENST00000545028.2",
"protein_id": "ENSP00000439602.2",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 687,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545028.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "XM_017020678.3",
"protein_id": "XP_016876167.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 575,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020678.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"transcript": "XM_017020679.2",
"protein_id": "XP_016876168.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 525,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020679.2"
}
],
"gene_symbol": "KLHL1",
"gene_hgnc_id": 6352,
"dbsnp": "rs530644820",
"frequency_reference_population": 0.0000037188822,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342165,
"gnomad_genomes_af": 0.00000657445,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3834061324596405,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.516,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1265,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.921,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020866.3",
"gene_symbol": "KLHL1",
"hgnc_id": 6352,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Ala631Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}