← 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: 16-30086225-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30086225&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30086225,
"ref": "T",
"alt": "A",
"effect": "stop_lost",
"transcript": "ENST00000395224.7",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Ter437Cysext*?",
"transcript": "NM_004608.4",
"protein_id": "NP_004599.2",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": "ENST00000395224.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Ter437Cysext*?",
"transcript": "ENST00000395224.7",
"protein_id": "ENSP00000378650.2",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": "NM_004608.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Ter437Cysext*?",
"transcript": "ENST00000279386.6",
"protein_id": "ENSP00000279386.2",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Ter437Cysext*?",
"transcript": "XM_011545926.4",
"protein_id": "XP_011544228.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Ter437Cysext*?",
"transcript": "XM_047434551.1",
"protein_id": "XP_047290507.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 436,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "n.*445A>T",
"hgvs_p": null,
"transcript": "ENST00000567664.5",
"protein_id": "ENSP00000460425.1",
"transcript_support_level": 5,
"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": 1543,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"hgvs_c": "n.*445A>T",
"hgvs_p": null,
"transcript": "ENST00000567664.5",
"protein_id": "ENSP00000460425.1",
"transcript_support_level": 5,
"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": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX6",
"gene_hgnc_id": 11605,
"dbsnp": "rs587777113",
"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": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.648,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000395224.7",
"gene_symbol": "TBX6",
"hgnc_id": 11605,
"effects": [
"stop_lost"
],
"inheritance_mode": "Unknown,AD,SD",
"hgvs_c": "c.1311A>T",
"hgvs_p": "p.Ter437Cysext*?"
}
],
"clinvar_disease": " autosomal recessive,Spondylocostal dysostosis 2,Spondylocostal dysostosis 5",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Spondylocostal dysostosis 5|Spondylocostal dysostosis 2, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}