← Back to variant description
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: 12-124326241-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=124326241&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 124326241,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006312.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7313G>A",
"hgvs_p": "p.Arg2438His",
"transcript": "NM_006312.6",
"protein_id": "NP_006303.4",
"transcript_support_level": null,
"aa_start": 2438,
"aa_end": null,
"aa_length": 2514,
"cds_start": 7313,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405201.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006312.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7313G>A",
"hgvs_p": "p.Arg2438His",
"transcript": "ENST00000405201.6",
"protein_id": "ENSP00000384018.1",
"transcript_support_level": 1,
"aa_start": 2438,
"aa_end": null,
"aa_length": 2514,
"cds_start": 7313,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006312.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405201.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7283G>A",
"hgvs_p": "p.Arg2428His",
"transcript": "ENST00000429285.6",
"protein_id": "ENSP00000400281.2",
"transcript_support_level": 1,
"aa_start": 2428,
"aa_end": null,
"aa_length": 2504,
"cds_start": 7283,
"cds_end": null,
"cds_length": 7515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429285.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7145G>A",
"hgvs_p": "p.Arg2382His",
"transcript": "ENST00000404621.5",
"protein_id": "ENSP00000384202.1",
"transcript_support_level": 1,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2458,
"cds_start": 7145,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404621.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7325G>A",
"hgvs_p": "p.Arg2442His",
"transcript": "ENST00000938317.1",
"protein_id": "ENSP00000608376.1",
"transcript_support_level": null,
"aa_start": 2442,
"aa_end": null,
"aa_length": 2518,
"cds_start": 7325,
"cds_end": null,
"cds_length": 7557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938317.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7283G>A",
"hgvs_p": "p.Arg2428His",
"transcript": "NM_001206654.2",
"protein_id": "NP_001193583.1",
"transcript_support_level": null,
"aa_start": 2428,
"aa_end": null,
"aa_length": 2504,
"cds_start": 7283,
"cds_end": null,
"cds_length": 7515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206654.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7283G>A",
"hgvs_p": "p.Arg2428His",
"transcript": "ENST00000938318.1",
"protein_id": "ENSP00000608377.1",
"transcript_support_level": null,
"aa_start": 2428,
"aa_end": null,
"aa_length": 2504,
"cds_start": 7283,
"cds_end": null,
"cds_length": 7515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938318.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7283G>A",
"hgvs_p": "p.Arg2428His",
"transcript": "ENST00000938320.1",
"protein_id": "ENSP00000608379.1",
"transcript_support_level": null,
"aa_start": 2428,
"aa_end": null,
"aa_length": 2504,
"cds_start": 7283,
"cds_end": null,
"cds_length": 7515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938320.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7280G>A",
"hgvs_p": "p.Arg2427His",
"transcript": "ENST00000938316.1",
"protein_id": "ENSP00000608375.1",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2503,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938316.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7277G>A",
"hgvs_p": "p.Arg2426His",
"transcript": "ENST00000938315.1",
"protein_id": "ENSP00000608374.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2502,
"cds_start": 7277,
"cds_end": null,
"cds_length": 7509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938315.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7277G>A",
"hgvs_p": "p.Arg2426His",
"transcript": "ENST00000938319.1",
"protein_id": "ENSP00000608378.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2502,
"cds_start": 7277,
"cds_end": null,
"cds_length": 7509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938319.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.7145G>A",
"hgvs_p": "p.Arg2382His",
"transcript": "NM_001077261.4",
"protein_id": "NP_001070729.2",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2458,
"cds_start": 7145,
"cds_end": null,
"cds_length": 7377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077261.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102His",
"transcript": "ENST00000413172.1",
"protein_id": "ENSP00000407357.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 131,
"cds_start": 305,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413172.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99His",
"transcript": "ENST00000418829.5",
"protein_id": "ENSP00000391389.1",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 128,
"cds_start": 296,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418829.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "n.703G>A",
"hgvs_p": null,
"transcript": "ENST00000443451.6",
"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": "retained_intron",
"feature": "ENST00000443451.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"hgvs_c": "n.381G>A",
"hgvs_p": null,
"transcript": "ENST00000464377.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000464377.1"
}
],
"gene_symbol": "NCOR2",
"gene_hgnc_id": 7673,
"dbsnp": "rs375097070",
"frequency_reference_population": 0.000004526145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000358592,
"gnomad_genomes_af": 0.0000131382,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7321603298187256,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.546,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.969,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006312.6",
"gene_symbol": "NCOR2",
"hgnc_id": 7673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7313G>A",
"hgvs_p": "p.Arg2438His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}