← 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: 3-14130825-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14130825&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 14130825,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000306077.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_024334.3",
"protein_id": "NP_077310.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 400,
"cds_start": 166,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": "ENST00000306077.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000306077.5",
"protein_id": "ENSP00000303992.5",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 400,
"cds_start": 166,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": "NM_024334.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_001407274.1",
"protein_id": "NP_001394203.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 401,
"cds_start": 166,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_001407275.1",
"protein_id": "NP_001394204.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 399,
"cds_start": 166,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_001407276.1",
"protein_id": "NP_001394205.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 399,
"cds_start": 166,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_001407277.1",
"protein_id": "NP_001394206.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 398,
"cds_start": 166,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "NM_001407279.1",
"protein_id": "NP_001394208.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 375,
"cds_start": 166,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.16C>T",
"hgvs_p": "p.Arg6Cys",
"transcript": "NM_001407280.1",
"protein_id": "NP_001394209.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 350,
"cds_start": 16,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "n.*196C>T",
"hgvs_p": null,
"transcript": "ENST00000432444.2",
"protein_id": "ENSP00000395617.1",
"transcript_support_level": 3,
"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": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "n.*196C>T",
"hgvs_p": null,
"transcript": "ENST00000432444.2",
"protein_id": "ENSP00000395617.1",
"transcript_support_level": 3,
"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": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.163-12C>T",
"hgvs_p": null,
"transcript": "NM_001407278.1",
"protein_id": "NP_001394207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"dbsnp": "rs201094625",
"frequency_reference_population": 0.00007064764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 114,
"gnomad_exomes_af": 0.0000752673,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3706357479095459,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.5299,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.981,
"phylop100way_prediction": "Benign",
"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": "ENST00000306077.5",
"gene_symbol": "TMEM43",
"hgnc_id": 28472,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 5,Cardiomyopathy,Cardiovascular phenotype,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 5|Cardiomyopathy|not specified|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}