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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: 15-89716914-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89716914&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89716914,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000268130.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "NM_020212.2",
"protein_id": "NP_064597.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 686,
"cds_start": 760,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": "ENST00000268130.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "ENST00000268130.12",
"protein_id": "ENSP00000268130.7",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 686,
"cds_start": 760,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": "NM_020212.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "NM_001284395.2",
"protein_id": "NP_001271324.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 658,
"cds_start": 760,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "ENST00000560294.5",
"protein_id": "ENSP00000453971.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 658,
"cds_start": 760,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_006720614.2",
"protein_id": "XP_006720677.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 725,
"cds_start": 760,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_011521794.3",
"protein_id": "XP_011520096.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 725,
"cds_start": 760,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_011521795.2",
"protein_id": "XP_011520097.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 725,
"cds_start": 760,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_006720615.2",
"protein_id": "XP_006720678.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 696,
"cds_start": 760,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_011521796.3",
"protein_id": "XP_011520098.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 640,
"cds_start": 760,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.232T>G",
"hgvs_p": "p.Ser78Ala",
"transcript": "XM_047432868.1",
"protein_id": "XP_047288824.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 549,
"cds_start": 232,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.166T>G",
"hgvs_p": "p.Ser56Ala",
"transcript": "XM_024449994.2",
"protein_id": "XP_024305762.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 527,
"cds_start": 166,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_006720618.2",
"protein_id": "XP_006720681.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 468,
"cds_start": 760,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_047432869.1",
"protein_id": "XP_047288825.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 372,
"cds_start": 760,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala",
"transcript": "XM_011521802.2",
"protein_id": "XP_011520104.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 367,
"cds_start": 760,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1224,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "n.847T>G",
"hgvs_p": null,
"transcript": "XR_931869.2",
"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": 2321,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"hgvs_c": "n.847T>G",
"hgvs_p": null,
"transcript": "XR_931870.1",
"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": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR93",
"gene_hgnc_id": 26924,
"dbsnp": "rs7163367",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0512920618057251,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.44,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000268130.12",
"gene_symbol": "WDR93",
"hgnc_id": 26924,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.760T>G",
"hgvs_p": "p.Ser254Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}