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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: 3-14135824-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14135824&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TMEM43",
"hgnc_id": 28472,
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Arg267Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001407274.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000268279",
"hgnc_id": null,
"hgvs_c": "n.33G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000608606.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 168,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " autosomal dominant, autosomal dominant 3,Arrhythmogenic right ventricular dysplasia 5,Auditory neuropathy,Cardiomyopathy,Cardiovascular phenotype,Emery-Dreifuss muscular dystrophy 7,TMEM43-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1203,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_024334.3",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Arg266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306077.5",
"protein_coding": true,
"protein_id": "NP_077310.1",
"strand": true,
"transcript": "NM_024334.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1203,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000306077.5",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Arg266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024334.3",
"protein_coding": true,
"protein_id": "ENSP00000303992.5",
"strand": true,
"transcript": "ENST00000306077.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000608606.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000268279",
"hgvs_c": "n.33G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476275.1",
"strand": true,
"transcript": "ENST00000608606.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1206,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001407274.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Arg267Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394203.1",
"strand": true,
"transcript": "NM_001407274.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1206,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949127.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.801G>A",
"hgvs_p": "p.Arg267Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619186.1",
"strand": true,
"transcript": "ENST00000949127.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1200,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001407275.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Arg265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394204.1",
"strand": true,
"transcript": "NM_001407275.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1200,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001407276.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Arg266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394205.1",
"strand": true,
"transcript": "NM_001407276.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1200,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926410.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Arg266Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596469.1",
"strand": true,
"transcript": "ENST00000926410.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3259,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1200,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949126.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Arg265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619185.1",
"strand": true,
"transcript": "ENST00000949126.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1197,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001407277.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Arg265Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394206.1",
"strand": true,
"transcript": "NM_001407277.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1188,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001407278.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Arg261Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394207.1",
"strand": true,
"transcript": "NM_001407278.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 382,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1149,
"cds_start": 744,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949128.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.744G>A",
"hgvs_p": "p.Arg248Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619187.1",
"strand": true,
"transcript": "ENST00000949128.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1128,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407279.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.723G>A",
"hgvs_p": "p.Arg241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394208.1",
"strand": true,
"transcript": "NM_001407279.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1128,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855536.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.723G>A",
"hgvs_p": "p.Arg241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525595.1",
"strand": true,
"transcript": "ENST00000855536.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1053,
"cds_start": 648,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407280.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Arg216Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394209.1",
"strand": true,
"transcript": "NM_001407280.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1053,
"cds_start": 648,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926411.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Arg216Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596470.1",
"strand": true,
"transcript": "ENST00000926411.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855535.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.781-4G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525594.1",
"strand": true,
"transcript": "ENST00000855535.1",
"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": 3484,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000432444.2",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "n.*828G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395617.1",
"strand": true,
"transcript": "ENST00000432444.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713947.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "n.434G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000713947.1",
"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": 3484,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000432444.2",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "n.*828G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395617.1",
"strand": true,
"transcript": "ENST00000432444.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139078900",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00010412793,
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"gnomad_exomes_ac": 156,
"gnomad_exomes_af": 0.000106765,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 12,
"gnomad_genomes_af": 0.0000788219,
"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": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 5|TMEM43-related disorder|Cardiovascular phenotype|Emery-Dreifuss muscular dystrophy 7, autosomal dominant;Arrhythmogenic right ventricular dysplasia 5;Auditory neuropathy, autosomal dominant 3",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.244,
"pos": 14135824,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.12999999523162842,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.13,
"transcript": "NM_001407274.1"
}
]
}