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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: 12-111214273-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111214273&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 111214273,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001370598.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Ile46Thr",
"transcript": "NM_015267.4",
"protein_id": "NP_056082.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1486,
"cds_start": 137,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261726.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015267.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Ile46Thr",
"transcript": "ENST00000261726.11",
"protein_id": "ENSP00000261726.6",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 1486,
"cds_start": 137,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015267.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261726.11"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.317T>C",
"hgvs_p": "p.Ile106Thr",
"transcript": "ENST00000397643.3",
"protein_id": "ENSP00000380765.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 250,
"cds_start": 317,
"cds_end": null,
"cds_length": 754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397643.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "NM_001370598.1",
"protein_id": "NP_001357527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_011538069.3",
"protein_id": "XP_011536371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538069.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_011538070.3",
"protein_id": "XP_011536372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538070.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_017019080.2",
"protein_id": "XP_016874569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019080.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_017019081.2",
"protein_id": "XP_016874570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019081.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_011538063.4",
"protein_id": "XP_011536365.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": null,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538063.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Ile46Thr",
"transcript": "ENST00000933089.1",
"protein_id": "ENSP00000603148.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1470,
"cds_start": 137,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933089.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Ile46Thr",
"transcript": "ENST00000933091.1",
"protein_id": "ENSP00000603150.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1451,
"cds_start": 137,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933091.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Ile46Thr",
"transcript": "ENST00000933090.1",
"protein_id": "ENSP00000603149.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1396,
"cds_start": 137,
"cds_end": null,
"cds_length": 4191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933090.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.137T>C",
"hgvs_p": "p.Ile46Thr",
"transcript": "ENST00000933092.1",
"protein_id": "ENSP00000603151.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 1361,
"cds_start": 137,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "NM_001370598.1",
"protein_id": "NP_001357527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_011538069.3",
"protein_id": "XP_011536371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538069.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_011538070.3",
"protein_id": "XP_011536372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538070.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_017019080.2",
"protein_id": "XP_016874569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019080.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_017019081.2",
"protein_id": "XP_016874570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1424,
"cds_start": null,
"cds_end": null,
"cds_length": 4275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019081.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "XM_011538063.4",
"protein_id": "XP_011536365.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": null,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538063.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"hgvs_c": "n.-28T>C",
"hgvs_p": null,
"transcript": "ENST00000551604.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000551604.2"
}
],
"gene_symbol": "CUX2",
"gene_hgnc_id": 19347,
"dbsnp": "rs371927310",
"frequency_reference_population": 0.000010973877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109739,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4195302128791809,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.2116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.608,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001370598.1",
"gene_symbol": "CUX2",
"hgnc_id": 19347,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-50T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 67,Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 67",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}