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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: 14-100381001-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100381001&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR25",
"hgnc_id": 21064,
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024515.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0422,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.021304428577423096,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001161476.3",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402312.8",
"protein_coding": true,
"protein_id": "NP_001154948.1",
"strand": true,
"transcript": "NM_001161476.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000402312.8",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001161476.3",
"protein_coding": true,
"protein_id": "ENSP00000385540.3",
"strand": true,
"transcript": "ENST00000402312.8",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000335290.10",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334148.6",
"strand": true,
"transcript": "ENST00000335290.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 274,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 256,
"cds_end": null,
"cds_length": 825,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000554175.5",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450727.1",
"strand": true,
"transcript": "ENST00000554175.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000557710.5",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "n.77A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451070.1",
"strand": true,
"transcript": "ENST00000557710.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001350947.2",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337876.1",
"strand": true,
"transcript": "NM_001350947.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001350948.2",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337877.1",
"strand": true,
"transcript": "NM_001350948.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024515.6",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078791.3",
"strand": true,
"transcript": "NM_024515.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000554998.5",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450661.1",
"strand": true,
"transcript": "ENST00000554998.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 189,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878612.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548671.1",
"strand": true,
"transcript": "ENST00000878612.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 198,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878613.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548672.1",
"strand": true,
"transcript": "ENST00000878613.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878614.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548673.1",
"strand": true,
"transcript": "ENST00000878614.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 349,
"cds_end": null,
"cds_length": 1635,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937329.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607388.1",
"strand": true,
"transcript": "ENST00000937329.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 497,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1494,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962633.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632692.1",
"strand": true,
"transcript": "ENST00000962633.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 451,
"aa_ref": "H",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1356,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000962632.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.77A>C",
"hgvs_p": "p.His26Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632691.1",
"strand": true,
"transcript": "ENST00000962632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 294,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1169,
"cdna_start": null,
"cds_end": null,
"cds_length": 885,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001350949.2",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.-3+4497A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337878.1",
"strand": true,
"transcript": "NM_001350949.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 294,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1160,
"cdna_start": null,
"cds_end": null,
"cds_length": 885,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387351.1",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "c.-3+4506A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374280.1",
"strand": true,
"transcript": "NM_001387351.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554492.5",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "n.205+4297A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000554492.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555775.5",
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"hgvs_c": "n.78+4506A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555775.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs78359884",
"effect": "missense_variant",
"frequency_reference_population": 0.000006570475,
"gene_hgnc_id": 21064,
"gene_symbol": "WDR25",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657047,
"gnomad_genomes_homalt": 0,
"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": 1.092,
"pos": 100381001,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.136,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_024515.6"
}
]
}