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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: 2-224497761-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224497761&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224497761,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264414.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Val567Ile",
"transcript": "NM_003590.5",
"protein_id": "NP_003581.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 768,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "ENST00000264414.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Val567Ile",
"transcript": "ENST00000264414.9",
"protein_id": "ENSP00000264414.4",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 768,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "NM_003590.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Val543Ile",
"transcript": "ENST00000409096.5",
"protein_id": "ENSP00000387200.1",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 744,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Val543Ile",
"transcript": "ENST00000409777.5",
"protein_id": "ENSP00000386525.1",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 744,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1717G>A",
"hgvs_p": "p.Val573Ile",
"transcript": "NM_001257198.2",
"protein_id": "NP_001244127.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 774,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Ile",
"transcript": "NM_001257197.2",
"protein_id": "NP_001244126.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 702,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 6558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Ile",
"transcript": "ENST00000344951.8",
"protein_id": "ENSP00000343601.4",
"transcript_support_level": 2,
"aa_start": 501,
"aa_end": null,
"aa_length": 702,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 6592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Val20Ile",
"transcript": "ENST00000451538.1",
"protein_id": "ENSP00000410575.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 110,
"cds_start": 58,
"cds_end": null,
"cds_length": 333,
"cdna_start": 59,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1666G>A",
"hgvs_p": "p.Val556Ile",
"transcript": "XM_006712800.3",
"protein_id": "XP_006712863.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 757,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Val553Ile",
"transcript": "XM_011511995.2",
"protein_id": "XP_011510297.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 754,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "XM_011511996.3",
"protein_id": "XP_011510298.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 704,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "XM_047446024.1",
"protein_id": "XP_047301980.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 704,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 6486,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "n.124G>A",
"hgvs_p": null,
"transcript": "ENST00000487558.1",
"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": 1093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"dbsnp": "rs3738952",
"frequency_reference_population": 0.10384644,
"hom_count_reference_population": 10865,
"allele_count_reference_population": 167145,
"gnomad_exomes_af": 0.105237,
"gnomad_genomes_af": 0.0905328,
"gnomad_exomes_ac": 153367,
"gnomad_genomes_ac": 13778,
"gnomad_exomes_homalt": 9988,
"gnomad_genomes_homalt": 877,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013499259948730469,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.693,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000264414.9",
"gene_symbol": "CUL3",
"hgnc_id": 2553,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1699G>A",
"hgvs_p": "p.Val567Ile"
}
],
"clinvar_disease": "Autosomal dominant pseudohypoaldosteronism type 1,Pseudohypoaldosteronism type 2E,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Autosomal dominant pseudohypoaldosteronism type 1|Pseudohypoaldosteronism type 2E|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}