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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: 1-241728933-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241728933&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241728933,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000437684.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.1194+5497T>C",
"hgvs_p": null,
"transcript": "NM_001367482.1",
"protein_id": "NP_001354411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": "ENST00000437684.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.1194+5497T>C",
"hgvs_p": null,
"transcript": "ENST00000437684.7",
"protein_id": "ENSP00000402446.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": "NM_001367482.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.1164+5497T>C",
"hgvs_p": null,
"transcript": "ENST00000366552.6",
"protein_id": "ENSP00000355510.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.477+5497T>C",
"hgvs_p": null,
"transcript": "ENST00000414635.5",
"protein_id": "ENSP00000406656.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "n.1194+5497T>C",
"hgvs_p": null,
"transcript": "ENST00000425826.3",
"protein_id": "ENSP00000406342.3",
"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": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288723",
"gene_hgnc_id": null,
"hgvs_c": "n.340-99A>G",
"hgvs_p": null,
"transcript": "ENST00000684005.2",
"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": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288723",
"gene_hgnc_id": null,
"hgvs_c": "n.187-5505A>G",
"hgvs_p": null,
"transcript": "ENST00000790603.1",
"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": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.942+5497T>C",
"hgvs_p": null,
"transcript": "XM_017000315.2",
"protein_id": "XP_016855804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": -4,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.711+5497T>C",
"hgvs_p": null,
"transcript": "XM_011544086.4",
"protein_id": "XP_011542388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.711+5497T>C",
"hgvs_p": null,
"transcript": "XM_047445900.1",
"protein_id": "XP_047301856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.1194+5497T>C",
"hgvs_p": null,
"transcript": "XM_011544087.3",
"protein_id": "XP_011542389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.1194+5497T>C",
"hgvs_p": null,
"transcript": "XM_011544091.2",
"protein_id": "XP_011542393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"hgvs_c": "c.1194+5497T>C",
"hgvs_p": null,
"transcript": "XM_011544092.3",
"protein_id": "XP_011542394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": -4,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904603",
"gene_hgnc_id": null,
"hgvs_c": "n.190-99A>G",
"hgvs_p": null,
"transcript": "XR_007067054.1",
"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": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124904603",
"gene_hgnc_id": null,
"hgvs_c": "n.189+13126A>G",
"hgvs_p": null,
"transcript": "XR_007067055.1",
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR64",
"gene_hgnc_id": 26570,
"dbsnp": "rs9782914",
"frequency_reference_population": 0.19282378,
"hom_count_reference_population": 3463,
"allele_count_reference_population": 29315,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.192824,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 29315,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3463,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.745,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000437684.7",
"gene_symbol": "WDR64",
"hgnc_id": 26570,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1194+5497T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000684005.2",
"gene_symbol": "ENSG00000288723",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.340-99A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007067054.1",
"gene_symbol": "LOC124904603",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.190-99A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}