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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: 17-6800802-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=6800802&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 6800802,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338694.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile",
"transcript": "NM_053285.2",
"protein_id": "NP_444515.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 418,
"cds_start": 994,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": "ENST00000338694.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile",
"transcript": "ENST00000338694.7",
"protein_id": "ENSP00000341346.2",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 418,
"cds_start": 994,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": "NM_053285.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "n.*585G>A",
"hgvs_p": null,
"transcript": "ENST00000575592.1",
"protein_id": "ENSP00000460359.1",
"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": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "n.*585G>A",
"hgvs_p": null,
"transcript": "ENST00000575592.1",
"protein_id": "ENSP00000460359.1",
"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": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "c.238-568G>A",
"hgvs_p": null,
"transcript": "ENST00000572291.1",
"protein_id": "ENSP00000458518.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "c.187-11472G>A",
"hgvs_p": null,
"transcript": "ENST00000571744.1",
"protein_id": "ENSP00000460197.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": -4,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"hgvs_c": "c.853-568G>A",
"hgvs_p": null,
"transcript": "XM_011524027.4",
"protein_id": "XP_011522329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TEKT1",
"gene_hgnc_id": 15534,
"dbsnp": "rs2271233",
"frequency_reference_population": 0.07416285,
"hom_count_reference_population": 4820,
"allele_count_reference_population": 119707,
"gnomad_exomes_af": 0.0760389,
"gnomad_genomes_af": 0.0561517,
"gnomad_exomes_ac": 111157,
"gnomad_genomes_ac": 8550,
"gnomad_exomes_homalt": 4521,
"gnomad_genomes_homalt": 299,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0031917691230773926,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.402,
"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": "ENST00000338694.7",
"gene_symbol": "TEKT1",
"hgnc_id": 15534,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}