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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: 17-41819306-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41819306&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41819306,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "NM_021939.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.831dupC",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_021939.4",
"protein_id": "NP_068758.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "ENST00000321562.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.831dupC",
"hgvs_p": "p.Gly278fs",
"transcript": "ENST00000321562.9",
"protein_id": "ENSP00000317232.4",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "NM_021939.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.57dupC",
"hgvs_p": "p.Gly20fs",
"transcript": "ENST00000455106.1",
"protein_id": "ENSP00000416822.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 385,
"cds_start": 58,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 60,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.831dupC",
"hgvs_p": "p.Gly278fs",
"transcript": "XM_011525099.4",
"protein_id": "XP_011523401.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 601,
"cds_start": 832,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.558dupC",
"hgvs_p": "p.Gly187fs",
"transcript": "XM_011525100.3",
"protein_id": "XP_011523402.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 510,
"cds_start": 559,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.558dupC",
"hgvs_p": "p.Gly187fs",
"transcript": "XM_047436515.1",
"protein_id": "XP_047292471.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 491,
"cds_start": 559,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2439,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.444dupC",
"hgvs_p": null,
"transcript": "ENST00000487489.1",
"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": 578,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.*241dupC",
"hgvs_p": null,
"transcript": "ENST00000489591.5",
"protein_id": "ENSP00000466352.1",
"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": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.*241dupC",
"hgvs_p": null,
"transcript": "ENST00000489591.5",
"protein_id": "ENSP00000466352.1",
"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": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.727+786dupC",
"hgvs_p": null,
"transcript": "ENST00000706683.1",
"protein_id": "ENSP00000516497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"dbsnp": "rs137853883",
"frequency_reference_population": 0.00009669921,
"hom_count_reference_population": 0,
"allele_count_reference_population": 156,
"gnomad_exomes_af": 0.0000909918,
"gnomad_genomes_af": 0.000151735,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"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": -0.727,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_021939.4",
"gene_symbol": "FKBP10",
"hgnc_id": 18169,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.831dupC",
"hgvs_p": "p.Gly278fs"
}
],
"clinvar_disease": "Abnormality of the skeletal system,Bruck syndrome 1,Osteogenesis imperfecta,Osteogenesis imperfecta type 11,Osteogenesis imperfecta type 12,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:15 US:1",
"phenotype_combined": "Osteogenesis imperfecta type 12|Bruck syndrome 1|Osteogenesis imperfecta type 11|Osteogenesis imperfecta|not provided|Abnormality of the skeletal system|Osteogenesis imperfecta type 11;Bruck syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}