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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: 14-75971643-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75971643&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75971643,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003239.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "NM_003239.5",
"protein_id": "NP_003230.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238682.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003239.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000238682.8",
"protein_id": "ENSP00000238682.3",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003239.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238682.8"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000556285.1",
"protein_id": "ENSP00000451110.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 309,
"cds_start": 428,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556285.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.590G>C",
"hgvs_p": "p.Arg197Thr",
"transcript": "ENST00000964917.1",
"protein_id": "ENSP00000634976.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 466,
"cds_start": 590,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964917.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "NM_001329939.2",
"protein_id": "NP_001316868.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329939.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000556674.2",
"protein_id": "ENSP00000502685.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556674.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000858792.1",
"protein_id": "ENSP00000528851.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858792.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000858793.1",
"protein_id": "ENSP00000528852.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858793.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000858794.1",
"protein_id": "ENSP00000528853.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858794.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000858795.1",
"protein_id": "ENSP00000528854.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858795.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000911430.1",
"protein_id": "ENSP00000581489.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911430.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000964914.1",
"protein_id": "ENSP00000634973.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964914.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000964915.1",
"protein_id": "ENSP00000634974.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 412,
"cds_start": 428,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964915.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000858796.1",
"protein_id": "ENSP00000528855.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 408,
"cds_start": 428,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858796.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "ENST00000858797.1",
"protein_id": "ENSP00000528856.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 376,
"cds_start": 428,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858797.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"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.428G>C",
"hgvs_p": "p.Arg143Thr",
"transcript": "NM_001329938.2",
"protein_id": "NP_001316867.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 309,
"cds_start": 428,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329938.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.353-5948G>C",
"hgvs_p": null,
"transcript": "ENST00000964916.1",
"protein_id": "ENSP00000634975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964916.1"
},
{
"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.90-17242C>G",
"hgvs_p": null,
"transcript": "ENST00000555677.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000555677.5"
},
{
"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.*56C>G",
"hgvs_p": null,
"transcript": "ENST00000553732.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553732.1"
}
],
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"dbsnp": "rs532403511",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1542772352695465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.184,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003239.5",
"gene_symbol": "TGFB3",
"hgnc_id": 11769,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Thr"
},
{
"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.90-17242C>G",
"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.*56C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}