← 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: 3-14135885-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14135885&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM43",
"hgnc_id": 28472,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.His288Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001407274.1",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000268279",
"hgnc_id": null,
"hgvs_c": "n.94C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000608606.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 68,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0919,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 5,Cardiomyopathy,Cardiovascular phenotype,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0886828601360321,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "H",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1203,
"cds_start": 859,
"consequences": [
"missense_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.859C>T",
"hgvs_p": "p.His287Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "H",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1203,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000306077.5",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.His287Tyr",
"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.94C>T",
"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": "Y",
"aa_end": null,
"aa_length": 401,
"aa_ref": "H",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1206,
"cds_start": 862,
"consequences": [
"missense_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.862C>T",
"hgvs_p": "p.His288Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 401,
"aa_ref": "H",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1206,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949127.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.862C>T",
"hgvs_p": "p.His288Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "H",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1200,
"cds_start": 856,
"consequences": [
"missense_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.856C>T",
"hgvs_p": "p.His286Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "H",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1200,
"cds_start": 859,
"consequences": [
"missense_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.859C>T",
"hgvs_p": "p.His287Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "H",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1200,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926410.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.His287Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "H",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3259,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1200,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949126.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.856C>T",
"hgvs_p": "p.His286Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 398,
"aa_ref": "H",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1197,
"cds_start": 856,
"consequences": [
"missense_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.856C>T",
"hgvs_p": "p.His286Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 395,
"aa_ref": "H",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1188,
"cds_start": 844,
"consequences": [
"missense_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.844C>T",
"hgvs_p": "p.His282Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 393,
"aa_ref": "H",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1182,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000855535.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.838C>T",
"hgvs_p": "p.His280Tyr",
"intron_rank": null,
"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": "Y",
"aa_end": null,
"aa_length": 382,
"aa_ref": "H",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1149,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949128.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.805C>T",
"hgvs_p": "p.His269Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 375,
"aa_ref": "H",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1128,
"cds_start": 784,
"consequences": [
"missense_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.784C>T",
"hgvs_p": "p.His262Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 375,
"aa_ref": "H",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1128,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000855536.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.784C>T",
"hgvs_p": "p.His262Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 350,
"aa_ref": "H",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1053,
"cds_start": 709,
"consequences": [
"missense_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.709C>T",
"hgvs_p": "p.His237Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 350,
"aa_ref": "H",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1053,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926411.1",
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"hgvs_c": "c.709C>T",
"hgvs_p": "p.His237Tyr",
"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": 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.*889C>T",
"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.495C>T",
"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.*889C>T",
"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": "rs780299346",
"effect": "missense_variant",
"frequency_reference_population": 0.000042129053,
"gene_hgnc_id": 28472,
"gene_symbol": "TMEM43",
"gnomad_exomes_ac": 66,
"gnomad_exomes_af": 0.0000451486,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131365,
"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": "not provided|Arrhythmogenic right ventricular dysplasia 5|Cardiomyopathy|Cardiovascular phenotype",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.115,
"pos": 14135885,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.057,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001407274.1"
}
]
}