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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: 10-65920494-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=65920494&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTNNA3",
"hgnc_id": 2511,
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Arg842Trp",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_013266.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 134,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1511,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "10",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 13,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20671796798706055,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10696,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2524,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_013266.4",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Arg842Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000433211.7",
"protein_coding": true,
"protein_id": "NP_037398.2",
"strand": false,
"transcript": "NM_013266.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10696,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2524,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000433211.7",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Arg842Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013266.4",
"protein_coding": true,
"protein_id": "ENSP00000389714.1",
"strand": false,
"transcript": "ENST00000433211.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10620,
"cdna_start": 2649,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2524,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001127384.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Arg842Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120856.1",
"strand": false,
"transcript": "NM_001127384.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10763,
"cdna_start": 2726,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2524,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000682758.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Arg842Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508047.1",
"strand": false,
"transcript": "ENST00000682758.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10766,
"cdna_start": 2729,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2524,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000684154.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Arg842Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508371.1",
"strand": false,
"transcript": "ENST00000684154.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4919,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 2487,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000682945.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Arg775Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506843.1",
"strand": false,
"transcript": "ENST00000682945.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 970,
"aa_ref": "R",
"aa_start": 917,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10962,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2749,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_017016152.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2749C>T",
"hgvs_p": "p.Arg917Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871641.1",
"strand": false,
"transcript": "XM_017016152.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10689,
"cdna_start": 2718,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2593,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017016151.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2593C>T",
"hgvs_p": "p.Arg865Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871640.1",
"strand": false,
"transcript": "XM_017016151.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10738,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2560,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047425124.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.2560C>T",
"hgvs_p": "p.Arg854Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281080.1",
"strand": false,
"transcript": "XM_047425124.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10075,
"cdna_start": 2104,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017016155.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Arg581Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871644.1",
"strand": false,
"transcript": "XM_017016155.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10012,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017016156.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Arg581Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871645.1",
"strand": false,
"transcript": "XM_017016156.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10103,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017016157.3",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Arg477Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871646.1",
"strand": false,
"transcript": "XM_017016157.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373735.2",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.700C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000373735.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000683963.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*2048C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507029.1",
"strand": false,
"transcript": "ENST00000683963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000683963.1",
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"hgvs_c": "n.*2048C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507029.1",
"strand": false,
"transcript": "ENST00000683963.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199852825",
"effect": "missense_variant",
"frequency_reference_population": 0.0000830254,
"gene_hgnc_id": 2511,
"gene_symbol": "CTNNA3",
"gnomad_exomes_ac": 87,
"gnomad_exomes_af": 0.0000595126,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 47,
"gnomad_genomes_af": 0.000309032,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 13|not provided|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.615,
"pos": 65920494,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.303,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_013266.4"
}
]
}