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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: 17-41820961-CC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41820961&ref=CC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41820961,
"ref": "CC",
"alt": "A",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000321562.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1271_1272delCCinsA",
"hgvs_p": "p.Ala424fs",
"transcript": "NM_021939.4",
"protein_id": "NP_068758.3",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 582,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "ENST00000321562.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1271_1272delCCinsA",
"hgvs_p": "p.Ala424fs",
"transcript": "ENST00000321562.9",
"protein_id": "ENSP00000317232.4",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 582,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": "NM_021939.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.935_936delCCinsA",
"hgvs_p": "p.Ala312fs",
"transcript": "ENST00000706683.1",
"protein_id": "ENSP00000516497.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 470,
"cds_start": 935,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.680_681delCCinsA",
"hgvs_p": "p.Ala227fs",
"transcript": "ENST00000455106.1",
"protein_id": "ENSP00000416822.1",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 385,
"cds_start": 680,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1328_1329delCCinsA",
"hgvs_p": "p.Ala443fs",
"transcript": "XM_011525099.4",
"protein_id": "XP_011523401.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 601,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.1055_1056delCCinsA",
"hgvs_p": "p.Ala352fs",
"transcript": "XM_011525100.3",
"protein_id": "XP_011523402.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 510,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.998_999delCCinsA",
"hgvs_p": "p.Ala333fs",
"transcript": "XM_047436515.1",
"protein_id": "XP_047292471.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 491,
"cds_start": 998,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1156,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.519_520delCCinsA",
"hgvs_p": null,
"transcript": "ENST00000464180.1",
"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": 1129,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.*1055_*1056delCCinsA",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.474_475delCCinsA",
"hgvs_p": null,
"transcript": "ENST00000490938.5",
"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": 837,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "n.*1055_*1056delCCinsA",
"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
}
],
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"dbsnp": "rs397509383",
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.072,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000321562.9",
"gene_symbol": "FKBP10",
"hgnc_id": 18169,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1271_1272delCCinsA",
"hgvs_p": "p.Ala424fs"
}
],
"clinvar_disease": "Bruck syndrome 1,Osteogenesis imperfecta type 12",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Bruck syndrome 1|Osteogenesis imperfecta type 12",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}