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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: 11-108046360-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108046360&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108046360,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000393094.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His",
"transcript": "NM_003478.6",
"protein_id": "NP_003469.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 780,
"cds_start": 225,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 6171,
"mane_select": "ENST00000393094.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His",
"transcript": "ENST00000393094.7",
"protein_id": "ENSP00000376808.2",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 780,
"cds_start": 225,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 6171,
"mane_select": "NM_003478.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "n.225A>C",
"hgvs_p": null,
"transcript": "ENST00000531427.5",
"protein_id": "ENSP00000435376.1",
"transcript_support_level": 1,
"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": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.90A>C",
"hgvs_p": "p.Gln30His",
"transcript": "ENST00000532782.1",
"protein_id": "ENSP00000431221.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 128,
"cds_start": 90,
"cds_end": null,
"cds_length": 387,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His",
"transcript": "XM_017018363.3",
"protein_id": "XP_016873852.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 742,
"cds_start": 225,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His",
"transcript": "XM_005271682.3",
"protein_id": "XP_005271739.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 721,
"cds_start": 225,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His",
"transcript": "XM_047427640.1",
"protein_id": "XP_047283596.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 683,
"cds_start": 225,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His",
"transcript": "XM_011543013.3",
"protein_id": "XP_011541315.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 396,
"cds_start": 225,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "n.618A>C",
"hgvs_p": null,
"transcript": "ENST00000526303.1",
"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": 751,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"hgvs_c": "n.135-3530A>C",
"hgvs_p": null,
"transcript": "ENST00000532064.5",
"protein_id": "ENSP00000436494.1",
"transcript_support_level": 5,
"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": 1109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUL5",
"gene_hgnc_id": 2556,
"dbsnp": "rs7117111",
"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": 0.5948036909103394,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.2875,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.339,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000393094.7",
"gene_symbol": "CUL5",
"hgnc_id": 2556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Gln75His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}