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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: 5-111106140-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=111106140&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 111106140,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139281.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "NM_139281.3",
"protein_id": "NP_644810.2",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 895,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000513710.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139281.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "ENST00000513710.4",
"protein_id": "ENSP00000424628.3",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 895,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139281.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513710.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "ENST00000946910.1",
"protein_id": "ENSP00000616969.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 895,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946910.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1174G>A",
"hgvs_p": "p.Ala392Thr",
"transcript": "ENST00000856283.1",
"protein_id": "ENSP00000526342.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 894,
"cds_start": 1174,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856283.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "ENST00000946909.1",
"protein_id": "ENSP00000616968.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 894,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946909.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "ENST00000856282.1",
"protein_id": "ENSP00000526341.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 893,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856282.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Ala341Thr",
"transcript": "ENST00000929671.1",
"protein_id": "ENSP00000599730.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 843,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929671.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "XM_047416729.1",
"protein_id": "XP_047272685.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 763,
"cds_start": 1177,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"hgvs_c": "n.1313G>A",
"hgvs_p": null,
"transcript": "ENST00000505303.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000505303.5"
}
],
"gene_symbol": "WDR36",
"gene_hgnc_id": 30696,
"dbsnp": "rs35703638",
"frequency_reference_population": 0.0061010015,
"hom_count_reference_population": 147,
"allele_count_reference_population": 9818,
"gnomad_exomes_af": 0.00626012,
"gnomad_genomes_af": 0.00457112,
"gnomad_exomes_ac": 9125,
"gnomad_genomes_ac": 693,
"gnomad_exomes_homalt": 140,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00589066743850708,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
"alphamissense_score": 0.1176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.251,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_139281.3",
"gene_symbol": "WDR36",
"hgnc_id": 30696,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr"
}
],
"clinvar_disease": " G, open angle,Glaucoma 1,Usher syndrome type 2C,WDR36-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Glaucoma 1, open angle, G|not provided|Usher syndrome type 2C|WDR36-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}