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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: 2-224503791-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224503791&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224503791,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000264414.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Asp413Gly",
"transcript": "NM_003590.5",
"protein_id": "NP_003581.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 768,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "ENST00000264414.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Asp413Gly",
"transcript": "ENST00000264414.9",
"protein_id": "ENSP00000264414.4",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 768,
"cds_start": 1238,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": "NM_003590.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Asp389Gly",
"transcript": "ENST00000409096.5",
"protein_id": "ENSP00000387200.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 744,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Asp389Gly",
"transcript": "ENST00000409777.5",
"protein_id": "ENSP00000386525.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 744,
"cds_start": 1166,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asp419Gly",
"transcript": "NM_001257198.2",
"protein_id": "NP_001244127.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 774,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asp347Gly",
"transcript": "NM_001257197.2",
"protein_id": "NP_001244126.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 702,
"cds_start": 1040,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 6558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asp347Gly",
"transcript": "ENST00000344951.8",
"protein_id": "ENSP00000343601.4",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 702,
"cds_start": 1040,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 6592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Asp402Gly",
"transcript": "XM_006712800.3",
"protein_id": "XP_006712863.2",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 757,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1196A>G",
"hgvs_p": "p.Asp399Gly",
"transcript": "XM_011511995.2",
"protein_id": "XP_011510297.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 754,
"cds_start": 1196,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.Asp349Gly",
"transcript": "XM_011511996.3",
"protein_id": "XP_011510298.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 704,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1046A>G",
"hgvs_p": "p.Asp349Gly",
"transcript": "XM_047446024.1",
"protein_id": "XP_047301980.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 704,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1322,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "n.534A>G",
"hgvs_p": null,
"transcript": "ENST00000481135.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"dbsnp": "rs199469656",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9062142372131348,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.932,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9468,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.1,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264414.9",
"gene_symbol": "CUL3",
"hgnc_id": 2553,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Asp413Gly"
}
],
"clinvar_disease": "Pseudohypoaldosteronism type 2A,Pseudohypoaldosteronism type 2E",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pseudohypoaldosteronism type 2E|Pseudohypoaldosteronism type 2A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}