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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: 6-16306438-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=16306438&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 16306438,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001128164.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN1",
"gene_hgnc_id": 10548,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Arg780Leu",
"transcript": "NM_001128164.2",
"protein_id": "NP_001121636.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 815,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 10557,
"mane_select": "ENST00000436367.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN1",
"gene_hgnc_id": 10548,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Arg780Leu",
"transcript": "ENST00000436367.6",
"protein_id": "ENSP00000416360.1",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 815,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3231,
"cdna_end": null,
"cdna_length": 10557,
"mane_select": "NM_001128164.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN1",
"gene_hgnc_id": 10548,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Arg780Leu",
"transcript": "ENST00000244769.8",
"protein_id": "ENSP00000244769.3",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 815,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 10602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN1",
"gene_hgnc_id": 10548,
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Arg780Leu",
"transcript": "NM_000332.4",
"protein_id": "NP_000323.2",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 815,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 10606,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN1",
"gene_hgnc_id": 10548,
"hgvs_c": "c.*1752G>T",
"hgvs_p": null,
"transcript": "NM_001357857.2",
"protein_id": "NP_001344786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATXN1",
"gene_hgnc_id": 10548,
"dbsnp": "rs980570197",
"frequency_reference_population": 0.000013146478,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131465,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7489393949508667,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.387,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.826,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001128164.2",
"gene_symbol": "ATXN1",
"hgnc_id": 10548,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2339G>T",
"hgvs_p": "p.Arg780Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}