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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: 14-75971682-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75971682&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75971682,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000238682.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg",
"transcript": "NM_003239.5",
"protein_id": "NP_003230.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 412,
"cds_start": 389,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": "ENST00000238682.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg",
"transcript": "ENST00000238682.8",
"protein_id": "ENSP00000238682.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 412,
"cds_start": 389,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": "NM_003239.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg",
"transcript": "ENST00000556285.1",
"protein_id": "ENSP00000451110.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 309,
"cds_start": 389,
"cds_end": null,
"cds_length": 930,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg",
"transcript": "NM_001329939.2",
"protein_id": "NP_001316868.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 412,
"cds_start": 389,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg",
"transcript": "ENST00000556674.2",
"protein_id": "ENSP00000502685.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 412,
"cds_start": 389,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg",
"transcript": "NM_001329938.2",
"protein_id": "NP_001316867.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 309,
"cds_start": 389,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFT43",
"gene_hgnc_id": 29669,
"hgvs_c": "n.90-17203T>C",
"hgvs_p": null,
"transcript": "ENST00000555677.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3-AS1",
"gene_hgnc_id": 53144,
"hgvs_c": "n.*95T>C",
"hgvs_p": null,
"transcript": "ENST00000553732.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"dbsnp": "rs780051351",
"frequency_reference_population": 0.00001710115,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000171011,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1711256206035614,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.938,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000238682.8",
"gene_symbol": "TGFB3",
"hgnc_id": 11769,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.389A>G",
"hgvs_p": "p.Lys130Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555677.5",
"gene_symbol": "IFT43",
"hgnc_id": 29669,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.90-17203T>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000553732.1",
"gene_symbol": "TGFB3-AS1",
"hgnc_id": 53144,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*95T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Rienhoff syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}