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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: 18-57027319-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57027319&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57027319,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "NM_015285.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "NM_015285.3",
"protein_id": "NP_056100.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1490,
"cds_start": null,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254442.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015285.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "ENST00000254442.8",
"protein_id": "ENSP00000254442.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1490,
"cds_start": null,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015285.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254442.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "NM_001382487.1",
"protein_id": "NP_001369416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1490,
"cds_start": null,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "NM_001382485.1",
"protein_id": "NP_001369414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": null,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "NM_052834.3",
"protein_id": "NP_443066.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": null,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052834.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "ENST00000357574.7",
"protein_id": "ENSP00000350187.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": null,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357574.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "XM_017025683.1",
"protein_id": "XP_016881172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": null,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "n.4822C>T",
"hgvs_p": null,
"transcript": "XR_007066131.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "n.4723C>T",
"hgvs_p": null,
"transcript": "XR_007066132.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "n.4723C>T",
"hgvs_p": null,
"transcript": "XR_007066133.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066133.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "n.4723C>T",
"hgvs_p": null,
"transcript": "XR_007066134.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"hgvs_c": "c.*112C>T",
"hgvs_p": null,
"transcript": "ENST00000589935.1",
"protein_id": "ENSP00000467485.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589935.1"
}
],
"gene_symbol": "WDR7",
"gene_hgnc_id": 13490,
"dbsnp": "rs3745032",
"frequency_reference_population": 0.024871832,
"hom_count_reference_population": 501,
"allele_count_reference_population": 33232,
"gnomad_exomes_af": 0.0253687,
"gnomad_genomes_af": 0.0208205,
"gnomad_exomes_ac": 30193,
"gnomad_genomes_ac": 3039,
"gnomad_exomes_homalt": 464,
"gnomad_genomes_homalt": 37,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"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": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.618,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015285.3",
"gene_symbol": "WDR7",
"hgnc_id": 13490,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*112C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}