← 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: 16-74874333-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74874333&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 74874333,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000262144.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2801C>A",
"hgvs_p": "p.Ser934*",
"transcript": "NM_030581.4",
"protein_id": "NP_085058.3",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 974,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000262144.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2801C>A",
"hgvs_p": "p.Ser934*",
"transcript": "ENST00000262144.11",
"protein_id": "ENSP00000262144.6",
"transcript_support_level": 5,
"aa_start": 934,
"aa_end": null,
"aa_length": 974,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 2907,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_030581.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2858C>A",
"hgvs_p": "p.Ser953*",
"transcript": "XM_005256146.4",
"protein_id": "XP_005256203.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 993,
"cds_start": 2858,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 5935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2762C>A",
"hgvs_p": "p.Ser921*",
"transcript": "XM_047434638.1",
"protein_id": "XP_047290594.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 961,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2705C>A",
"hgvs_p": "p.Ser902*",
"transcript": "XM_047434639.1",
"protein_id": "XP_047290595.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 942,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 5782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2102C>A",
"hgvs_p": "p.Ser701*",
"transcript": "XM_047434640.1",
"protein_id": "XP_047290596.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 741,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 5799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2102C>A",
"hgvs_p": "p.Ser701*",
"transcript": "XM_047434641.1",
"protein_id": "XP_047290597.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 741,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 6038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.2045C>A",
"hgvs_p": "p.Ser682*",
"transcript": "XM_047434642.1",
"protein_id": "XP_047290598.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 722,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 5742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Ser646*",
"transcript": "XM_047434643.1",
"protein_id": "XP_047290599.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 686,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Ser632*",
"transcript": "XM_047434644.1",
"protein_id": "XP_047290600.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.1895C>A",
"hgvs_p": "p.Ser632*",
"transcript": "XM_047434645.1",
"protein_id": "XP_047290601.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 672,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.1838C>A",
"hgvs_p": "p.Ser613*",
"transcript": "XM_047434646.1",
"protein_id": "XP_047290602.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 653,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "n.695C>A",
"hgvs_p": null,
"transcript": "ENST00000569183.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "c.*93C>A",
"hgvs_p": null,
"transcript": "ENST00000563797.5",
"protein_id": "ENSP00000455060.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"hgvs_c": "n.*62C>A",
"hgvs_p": null,
"transcript": "ENST00000569968.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR59",
"gene_hgnc_id": 25706,
"dbsnp": "rs776566274",
"frequency_reference_population": 6.840722e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84072e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"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": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.879,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000262144.11",
"gene_symbol": "WDR59",
"hgnc_id": 25706,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2801C>A",
"hgvs_p": "p.Ser934*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}