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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: 20-43623999-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=43623999&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 43623999,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000373030.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"transcript": "NM_016004.5",
"protein_id": "NP_057088.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 437,
"cds_start": 878,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "ENST00000373030.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"transcript": "ENST00000373030.8",
"protein_id": "ENSP00000362121.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 437,
"cds_start": 878,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "NM_016004.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"transcript": "NM_001303458.3",
"protein_id": "NP_001290387.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 437,
"cds_start": 878,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"transcript": "ENST00000373039.4",
"protein_id": "ENSP00000362130.4",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 437,
"cds_start": 878,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs",
"transcript": "NM_001303459.3",
"protein_id": "NP_001290388.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 373,
"cds_start": 878,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Leu117fs",
"transcript": "NM_001323578.2",
"protein_id": "NP_001310507.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 261,
"cds_start": 350,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Leu117fs",
"transcript": "NM_001323580.2",
"protein_id": "NP_001310509.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 261,
"cds_start": 350,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.227delT",
"hgvs_p": "p.Leu76fs",
"transcript": "NM_001323579.2",
"protein_id": "NP_001310508.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 220,
"cds_start": 227,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.227delT",
"hgvs_p": "p.Leu76fs",
"transcript": "NM_001323581.2",
"protein_id": "NP_001310510.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 220,
"cds_start": 227,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "n.393delT",
"hgvs_p": null,
"transcript": "ENST00000467024.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "n.455delT",
"hgvs_p": null,
"transcript": "ENST00000468420.5",
"protein_id": null,
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"dbsnp": "rs886037870",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.833,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000373030.8",
"gene_symbol": "IFT52",
"hgnc_id": 15901,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.878delT",
"hgvs_p": "p.Leu293fs"
}
],
"clinvar_disease": "Short rib-polydactyly syndrome,Short-rib thoracic dysplasia 16 with or without polydactyly",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Short-rib thoracic dysplasia 16 with or without polydactyly|Short rib-polydactyly syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}