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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: 12-12164494-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=12164494&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 12164494,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261349.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_002336.3",
"protein_id": "NP_002327.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1613,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 10252,
"mane_select": "ENST00000261349.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "ENST00000261349.9",
"protein_id": "ENSP00000261349.4",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 1613,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 10252,
"mane_select": "NM_002336.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "ENST00000543091.1",
"protein_id": "ENSP00000442472.1",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 1568,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4707,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 4774,
"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": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "n.1423C>T",
"hgvs_p": null,
"transcript": "ENST00000538239.5",
"protein_id": "ENSP00000445083.1",
"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": 7812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414244.1",
"protein_id": "NP_001401173.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1644,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414245.1",
"protein_id": "NP_001401174.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1613,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414246.1",
"protein_id": "NP_001401175.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1568,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4707,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Cys",
"transcript": "NM_001414247.1",
"protein_id": "NP_001401176.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 1547,
"cds_start": 1633,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414248.1",
"protein_id": "NP_001401177.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1545,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4638,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414249.1",
"protein_id": "NP_001401178.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1527,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414250.1",
"protein_id": "NP_001401179.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1519,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys",
"transcript": "NM_001414251.1",
"protein_id": "NP_001401180.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1492,
"cds_start": 1831,
"cds_end": null,
"cds_length": 4479,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "NM_001414252.1",
"protein_id": "NP_001401181.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1378,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "NM_001414253.1",
"protein_id": "NP_001401182.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1378,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 5416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Cys",
"transcript": "NM_001414254.1",
"protein_id": "NP_001401183.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1378,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343Cys",
"transcript": "XM_047428844.1",
"protein_id": "XP_047284800.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1345,
"cds_start": 1027,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 9905,
"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": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "n.2140C>T",
"hgvs_p": null,
"transcript": "NR_182264.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8531,
"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": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "n.2140C>T",
"hgvs_p": null,
"transcript": "XR_002957325.2",
"protein_id": null,
"transcript_support_level": null,
"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": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"hgvs_c": "c.1546-2075C>T",
"hgvs_p": null,
"transcript": "NM_001414255.1",
"protein_id": "NP_001401184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1444,
"cds_start": -4,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4992,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BCL2L14",
"gene_hgnc_id": 16657,
"hgvs_c": "n.*25-22811G>A",
"hgvs_p": null,
"transcript": "ENST00000298566.2",
"protein_id": "ENSP00000298566.1",
"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": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRP6",
"gene_hgnc_id": 6698,
"dbsnp": "rs121918313",
"frequency_reference_population": 0.00002120563,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000212056,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9320430755615234,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.028,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate,PP5_Moderate,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Moderate",
"PP5_Moderate",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261349.9",
"gene_symbol": "LRP6",
"hgnc_id": 6698,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Cys"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000298566.2",
"gene_symbol": "BCL2L14",
"hgnc_id": 16657,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*25-22811G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 2,Coronary artery disease,LRP6-related disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Coronary artery disease, autosomal dominant 2|LRP6-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}