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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: 5-11110893-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=11110893&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 11110893,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000304623.13",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2428G>C",
"hgvs_p": "p.Gly810Arg",
"transcript": "NM_001332.4",
"protein_id": "NP_001323.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2428,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": "ENST00000304623.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2428G>C",
"hgvs_p": "p.Gly810Arg",
"transcript": "ENST00000304623.13",
"protein_id": "ENSP00000307134.8",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2428,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": "NM_001332.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"transcript": "ENST00000511377.5",
"protein_id": "ENSP00000426510.1",
"transcript_support_level": 1,
"aa_start": 719,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2155,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 4336,
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.1690G>C",
"hgvs_p": null,
"transcript": "ENST00000513588.5",
"protein_id": "ENSP00000421093.1",
"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": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"transcript": "NM_001288715.1",
"protein_id": "NP_001275644.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2155,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1498G>C",
"hgvs_p": "p.Gly500Arg",
"transcript": "ENST00000706272.1",
"protein_id": "ENSP00000516316.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 940,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "NM_001364128.2",
"protein_id": "NP_001351057.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 913,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "ENST00000706271.1",
"protein_id": "ENSP00000516315.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 913,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "NM_001288716.1",
"protein_id": "NP_001275645.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 888,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1417G>C",
"hgvs_p": "p.Gly473Arg",
"transcript": "ENST00000503622.5",
"protein_id": "ENSP00000426887.1",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 888,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1129G>C",
"hgvs_p": "p.Gly377Arg",
"transcript": "NM_001288717.2",
"protein_id": "NP_001275646.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 792,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2428G>C",
"hgvs_p": "p.Gly810Arg",
"transcript": "XM_005248251.4",
"protein_id": "XP_005248308.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2428,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"transcript": "XM_005248253.2",
"protein_id": "XP_005248310.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2155,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"transcript": "XM_011513967.3",
"protein_id": "XP_011512269.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2155,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1690G>C",
"hgvs_p": "p.Gly564Arg",
"transcript": "XM_017009072.2",
"protein_id": "XP_016864561.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1690,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1690G>C",
"hgvs_p": "p.Gly564Arg",
"transcript": "XM_017009074.2",
"protein_id": "XP_016864563.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 979,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Gly253Arg",
"transcript": "XM_047416777.1",
"protein_id": "XP_047272733.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 693,
"cds_start": 757,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 3805,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.1513G>C",
"hgvs_p": null,
"transcript": "ENST00000495388.6",
"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": 3684,
"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": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.*1167G>C",
"hgvs_p": null,
"transcript": "ENST00000504499.5",
"protein_id": "ENSP00000421000.1",
"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": 3567,
"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": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.2283G>C",
"hgvs_p": null,
"transcript": "NR_109988.2",
"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": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.*1167G>C",
"hgvs_p": null,
"transcript": "ENST00000504499.5",
"protein_id": "ENSP00000421000.1",
"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": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"dbsnp": "rs61754599",
"frequency_reference_population": 0.0000065684035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8136643171310425,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000304623.13",
"gene_symbol": "CTNND2",
"hgnc_id": 2516,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2428G>C",
"hgvs_p": "p.Gly810Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}