← 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: 1-7853370-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=7853370&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 7853370,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000377516.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Thr21Met",
"transcript": "ENST00000054668.5",
"protein_id": "ENSP00000054668.5",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 139,
"cds_start": 62,
"cds_end": null,
"cds_length": 420,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000377516.6",
"protein_id": "ENSP00000366738.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.-181C>T",
"hgvs_p": null,
"transcript": "XM_011540538.2",
"protein_id": "XP_011538840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Thr21Met",
"transcript": "NM_021995.2",
"protein_id": "NP_068835.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 139,
"cds_start": 62,
"cds_end": null,
"cds_length": 420,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Thr21Met",
"transcript": "XM_011540537.3",
"protein_id": "XP_011538839.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 139,
"cds_start": 62,
"cds_end": null,
"cds_length": 420,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.-179C>T",
"hgvs_p": null,
"transcript": "ENST00000377516.6",
"protein_id": "ENSP00000366738.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"hgvs_c": "c.-181C>T",
"hgvs_p": null,
"transcript": "XM_011540538.2",
"protein_id": "XP_011538840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UTS2",
"gene_hgnc_id": 12636,
"dbsnp": "rs228648",
"frequency_reference_population": 0.54716027,
"hom_count_reference_population": 245554,
"allele_count_reference_population": 882946,
"gnomad_exomes_af": 0.550088,
"gnomad_genomes_af": 0.51901,
"gnomad_exomes_ac": 804044,
"gnomad_genomes_ac": 78902,
"gnomad_exomes_homalt": 224569,
"gnomad_genomes_homalt": 20985,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000033832784538390115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1277,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.447,
"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": "ENST00000377516.6",
"gene_symbol": "UTS2",
"hgnc_id": 12636,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-179C>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
}