← 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: 14-75959196-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75959196&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75959196,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003239.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "NM_003239.5",
"protein_id": "NP_003230.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000238682.8",
"protein_id": "ENSP00000238682.3",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1392A>G",
"hgvs_p": "p.Lys464Lys",
"transcript": "ENST00000964917.1",
"protein_id": "ENSP00000634976.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 466,
"cds_start": 1392,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "NM_001329939.2",
"protein_id": "NP_001316868.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000556674.2",
"protein_id": "ENSP00000502685.1",
"transcript_support_level": 3,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000858792.1",
"protein_id": "ENSP00000528851.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000858793.1",
"protein_id": "ENSP00000528852.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000858794.1",
"protein_id": "ENSP00000528853.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000858795.1",
"protein_id": "ENSP00000528854.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000911430.1",
"protein_id": "ENSP00000581489.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000964914.1",
"protein_id": "ENSP00000634973.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys",
"transcript": "ENST00000964915.1",
"protein_id": "ENSP00000634974.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1230,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1218A>G",
"hgvs_p": "p.Lys406Lys",
"transcript": "ENST00000858796.1",
"protein_id": "ENSP00000528855.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 408,
"cds_start": 1218,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.1122A>G",
"hgvs_p": "p.Lys374Lys",
"transcript": "ENST00000858797.1",
"protein_id": "ENSP00000528856.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 376,
"cds_start": 1122,
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "c.936A>G",
"hgvs_p": "p.Lys312Lys",
"transcript": "ENST00000964916.1",
"protein_id": "ENSP00000634975.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 314,
"cds_start": 936,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "n.1611A>G",
"hgvs_p": null,
"transcript": "ENST00000554980.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000554980.5"
},
{
"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.90-29689T>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": 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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"hgvs_c": "n.*93A>G",
"hgvs_p": null,
"transcript": "ENST00000556507.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000556507.1"
}
],
"gene_symbol": "TGFB3",
"gene_hgnc_id": 11769,
"dbsnp": "rs373100223",
"frequency_reference_population": 0.000040268773,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000417275,
"gnomad_genomes_af": 0.000026266,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.399,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_003239.5",
"gene_symbol": "TGFB3",
"hgnc_id": 11769,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Lys410Lys"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000555677.5",
"gene_symbol": "IFT43",
"hgnc_id": 29669,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.90-29689T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Rienhoff syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|Rienhoff syndrome|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}