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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: 3-14139250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14139250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 14139250,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000306077.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"transcript": "NM_024334.3",
"protein_id": "NP_077310.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 400,
"cds_start": 953,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": "ENST00000306077.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"transcript": "ENST00000306077.5",
"protein_id": "ENSP00000303992.5",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 400,
"cds_start": 953,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": "NM_024334.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268279",
"gene_hgnc_id": null,
"hgvs_c": "n.188C>T",
"hgvs_p": null,
"transcript": "ENST00000608606.1",
"protein_id": "ENSP00000476275.1",
"transcript_support_level": 5,
"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": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Ala319Val",
"transcript": "NM_001407274.1",
"protein_id": "NP_001394203.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 401,
"cds_start": 956,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Ala317Val",
"transcript": "NM_001407275.1",
"protein_id": "NP_001394204.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 399,
"cds_start": 950,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Ala317Val",
"transcript": "NM_001407276.1",
"protein_id": "NP_001394205.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 399,
"cds_start": 950,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "NM_001407277.1",
"protein_id": "NP_001394206.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 398,
"cds_start": 947,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"transcript": "NM_001407278.1",
"protein_id": "NP_001394207.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 395,
"cds_start": 938,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Ala293Val",
"transcript": "NM_001407279.1",
"protein_id": "NP_001394208.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 375,
"cds_start": 878,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "NM_001407280.1",
"protein_id": "NP_001394209.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 350,
"cds_start": 803,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 945,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "n.*983C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268279",
"gene_hgnc_id": null,
"hgvs_c": "n.280C>T",
"hgvs_p": null,
"transcript": "ENST00000601399.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 787,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "n.589C>T",
"hgvs_p": null,
"transcript": "ENST00000713947.1",
"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": 2723,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"hgvs_c": "n.*983C>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
}
],
"gene_symbol": "TMEM43",
"gene_hgnc_id": 28472,
"dbsnp": "rs11924644",
"frequency_reference_population": 0.0010779507,
"hom_count_reference_population": 21,
"allele_count_reference_population": 1740,
"gnomad_exomes_af": 0.000594448,
"gnomad_genomes_af": 0.00571845,
"gnomad_exomes_ac": 869,
"gnomad_genomes_ac": 871,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009778648614883423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.1348,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.392,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000306077.5",
"gene_symbol": "TMEM43",
"hgnc_id": 28472,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000608606.1",
"gene_symbol": "ENSG00000268279",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.188C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 5,Cardiomyopathy,Cardiovascular phenotype,Sudden cardiac arrest,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"phenotype_combined": "not specified|Cardiovascular phenotype|Sudden cardiac arrest|Cardiomyopathy|not provided|Arrhythmogenic right ventricular dysplasia 5",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}