← Back to variant description
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: 14-20428905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20428905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20428905,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000636854.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Ala780Thr",
"transcript": "NM_001365790.2",
"protein_id": "NP_001352719.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 797,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "ENST00000636854.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Ala780Thr",
"transcript": "ENST00000636854.3",
"protein_id": "ENSP00000490040.1",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 797,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "NM_001365790.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Ala516Thr",
"transcript": "NM_001109997.3",
"protein_id": "NP_001103467.2",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 533,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Ala516Thr",
"transcript": "ENST00000344581.4",
"protein_id": "ENSP00000341549.4",
"transcript_support_level": 5,
"aa_start": 516,
"aa_end": null,
"aa_length": 533,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Ala780Thr",
"transcript": "XM_011536450.3",
"protein_id": "XP_011534752.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 797,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"hgvs_c": "c.*497G>A",
"hgvs_p": null,
"transcript": "ENST00000637228.1",
"protein_id": "ENSP00000489731.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291038",
"gene_hgnc_id": null,
"hgvs_c": "n.212+1253C>T",
"hgvs_p": null,
"transcript": "ENST00000800199.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291038",
"gene_hgnc_id": null,
"hgvs_c": "n.207+1253C>T",
"hgvs_p": null,
"transcript": "ENST00000800200.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLHL33",
"gene_hgnc_id": 31952,
"dbsnp": "rs7145318",
"frequency_reference_population": 0.59023255,
"hom_count_reference_population": 272074,
"allele_count_reference_population": 915708,
"gnomad_exomes_af": 0.586802,
"gnomad_genomes_af": 0.621784,
"gnomad_exomes_ac": 821111,
"gnomad_genomes_ac": 94597,
"gnomad_exomes_homalt": 242308,
"gnomad_genomes_homalt": 29766,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000001505274667579215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.877,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000636854.3",
"gene_symbol": "KLHL33",
"hgnc_id": 31952,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Ala780Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000800199.1",
"gene_symbol": "ENSG00000291038",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.212+1253C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}