← 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: 6-81751762-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=81751762&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 81751762,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017633.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro",
"transcript": "NM_017633.3",
"protein_id": "NP_060103.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 442,
"cds_start": 380,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320172.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017633.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro",
"transcript": "ENST00000320172.11",
"protein_id": "ENSP00000318298.6",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 442,
"cds_start": 380,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017633.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320172.11"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.623A>C",
"hgvs_p": "p.His208Pro",
"transcript": "ENST00000369756.3",
"protein_id": "ENSP00000358771.3",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 523,
"cds_start": 623,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369756.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.437A>C",
"hgvs_p": "p.His146Pro",
"transcript": "ENST00000369754.7",
"protein_id": "ENSP00000358769.3",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 461,
"cds_start": 437,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369754.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro",
"transcript": "ENST00000874672.1",
"protein_id": "ENSP00000544731.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 442,
"cds_start": 380,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874672.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro",
"transcript": "ENST00000874673.1",
"protein_id": "ENSP00000544732.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 442,
"cds_start": 380,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874673.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro",
"transcript": "ENST00000874674.1",
"protein_id": "ENSP00000544733.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 442,
"cds_start": 380,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874674.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro",
"transcript": "ENST00000959717.1",
"protein_id": "ENSP00000629776.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 442,
"cds_start": 380,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959717.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.50A>C",
"hgvs_p": "p.His17Pro",
"transcript": "ENST00000412306.1",
"protein_id": "ENSP00000401884.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 87,
"cds_start": 50,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.-11A>C",
"hgvs_p": null,
"transcript": "ENST00000423467.1",
"protein_id": "ENSP00000404872.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423467.1"
}
],
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"dbsnp": "rs1187611948",
"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": 0.9660472273826599,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.743,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.921,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_017633.3",
"gene_symbol": "TENT5A",
"hgnc_id": 18345,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.380A>C",
"hgvs_p": "p.His127Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}