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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: 1-152312492-GCTCACCTGGTAGAGG-CTGAGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=152312492&ref=GCTCACCTGGTAGAGG&alt=CTGAGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 152312492,
"ref": "GCTCACCTGGTAGAGG",
"alt": "CTGAGGA",
"effect": "missense_variant,disruptive_inframe_deletion",
"transcript": "ENST00000368799.2",
"consequences": [
{
"aa_ref": "FLYQVS",
"aa_alt": "FPQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLG",
"gene_hgnc_id": 3748,
"hgvs_c": "c.2379_2394delCCTCTACCAGGTGAGCinsTCCTCAG",
"hgvs_p": "p.Leu794_Ser798delinsProGln",
"transcript": "NM_002016.2",
"protein_id": "NP_002007.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 4061,
"cds_start": 2379,
"cds_end": null,
"cds_length": 12186,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": "ENST00000368799.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "FLYQVS",
"aa_alt": "FPQ",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLG",
"gene_hgnc_id": 3748,
"hgvs_c": "c.2379_2394delCCTCTACCAGGTGAGCinsTCCTCAG",
"hgvs_p": "p.Leu794_Ser798delinsProGln",
"transcript": "ENST00000368799.2",
"protein_id": "ENSP00000357789.1",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 4061,
"cds_start": 2379,
"cds_end": null,
"cds_length": 12186,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": "NM_002016.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.463-2414_463-2399delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000420707.5",
"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": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.377-2414_377-2399delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000593011.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.180-20091_180-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000630125.3",
"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": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.390-20091_390-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000653548.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.578-20091_578-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000655109.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.355-20091_355-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000659844.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.423-20091_423-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000664213.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.423-20091_423-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000666686.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.205-20091_205-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000669062.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.359-20091_359-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000669830.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.199-20091_199-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000759267.1",
"protein_id": null,
"transcript_support_level": null,
"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": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.578-20091_578-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "NR_186761.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.180-20091_180-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "NR_186762.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.207-20091_207-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "NR_186763.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.431-20091_431-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "NR_186764.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.404-20091_404-20076delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "NR_186765.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDST",
"gene_hgnc_id": 55988,
"hgvs_c": "n.-84_-69delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null,
"transcript": "ENST00000665223.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLG",
"gene_hgnc_id": 3748,
"dbsnp": "rs1553213630",
"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": 0.77,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368799.2",
"gene_symbol": "FLG",
"hgnc_id": 3748,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "SD,XL,AR,AD",
"hgvs_c": "c.2379_2394delCCTCTACCAGGTGAGCinsTCCTCAG",
"hgvs_p": "p.Leu794_Ser798delinsProGln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000593011.5",
"gene_symbol": "CCDST",
"hgnc_id": 55988,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.377-2414_377-2399delGCTCACCTGGTAGAGGinsCTGAGGA",
"hgvs_p": null
}
],
"clinvar_disease": " 2, atopic,Dermatitis,Ichthyosis vulgaris",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dermatitis, atopic, 2;Ichthyosis vulgaris",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}