← Back to variant description
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: 3-167500290-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=167500290&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR49",
"hgnc_id": 26587,
"hgvs_c": "c.2894G>A",
"hgvs_p": "p.Arg965Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001366157.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1056,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2043800950050354,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "R",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001366157.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.2894G>A",
"hgvs_p": "p.Arg965Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682715.1",
"protein_coding": true,
"protein_id": "NP_001353086.1",
"strand": false,
"transcript": "NM_001366157.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1049,
"aa_ref": "R",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 3150,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000682715.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.2894G>A",
"hgvs_p": "p.Arg965Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366157.1",
"protein_coding": true,
"protein_id": "ENSP00000507497.1",
"strand": false,
"transcript": "ENST00000682715.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 2144,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000308378.7",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.1838G>A",
"hgvs_p": "p.Arg613Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311343.3",
"strand": false,
"transcript": "ENST00000308378.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "R",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 3159,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001348951.2",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335880.1",
"strand": false,
"transcript": "NM_001348951.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "R",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 3044,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001348952.2",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335881.1",
"strand": false,
"transcript": "NM_001348952.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "R",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 3044,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000647816.2",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497120.1",
"strand": false,
"transcript": "ENST00000647816.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1991,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000472600.6",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Arg664Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419130.2",
"strand": false,
"transcript": "ENST00000472600.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 2251,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001366158.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.1838G>A",
"hgvs_p": "p.Arg613Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353087.1",
"strand": false,
"transcript": "NM_001366158.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3325,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1799,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000862151.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532210.1",
"strand": false,
"transcript": "ENST00000862151.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000961484.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631543.1",
"strand": false,
"transcript": "ENST00000961484.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 668,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1935,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000961483.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631542.1",
"strand": false,
"transcript": "ENST00000961483.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 236,
"aa_ref": "R",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 638,
"cds_end": null,
"cds_length": 711,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961482.1",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631541.1",
"strand": false,
"transcript": "ENST00000961482.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479765.5",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "c.*18-21294G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419749.1",
"strand": false,
"transcript": "ENST00000479765.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000476376.5",
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"hgvs_c": "n.1549G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000476376.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1052017894",
"effect": "missense_variant",
"frequency_reference_population": 6.8866063e-7,
"gene_hgnc_id": 26587,
"gene_symbol": "WDR49",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.88661e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.196,
"pos": 167500290,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.179,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001366157.1"
}
]
}