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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: 17-58309371-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58309371&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58309371,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000343736.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Asp1301Tyr",
"transcript": "NM_004758.4",
"protein_id": "NP_004749.2",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1857,
"cds_start": 3901,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 7698,
"mane_select": "ENST00000343736.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Asp1301Tyr",
"transcript": "ENST00000343736.9",
"protein_id": "ENSP00000345824.4",
"transcript_support_level": 1,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1857,
"cds_start": 3901,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 7698,
"mane_select": "NM_004758.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.3721G>T",
"hgvs_p": "p.Asp1241Tyr",
"transcript": "ENST00000268893.10",
"protein_id": "ENSP00000268893.6",
"transcript_support_level": 1,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1797,
"cds_start": 3721,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 4561,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Asp1301Tyr",
"transcript": "NM_001261835.2",
"protein_id": "NP_001248764.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1848,
"cds_start": 3901,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.3721G>T",
"hgvs_p": "p.Asp1241Tyr",
"transcript": "NM_024418.3",
"protein_id": "NP_077729.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1797,
"cds_start": 3721,
"cds_end": null,
"cds_length": 5394,
"cdna_start": 4596,
"cdna_end": null,
"cdna_length": 7518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Asp433Tyr",
"transcript": "ENST00000580669.6",
"protein_id": "ENSP00000462822.2",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 980,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 4175,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"hgvs_c": "c.420+596G>T",
"hgvs_p": null,
"transcript": "ENST00000582679.1",
"protein_id": "ENSP00000462710.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": -4,
"cds_end": null,
"cds_length": 886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSPOAP1",
"gene_hgnc_id": 16831,
"dbsnp": "rs61741210",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3385334610939026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1343,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.462,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": "ENST00000343736.9",
"gene_symbol": "TSPOAP1",
"hgnc_id": 16831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3901G>T",
"hgvs_p": "p.Asp1301Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}