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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: 1-218346994-ACTACGCCAAGGAGGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=218346994&ref=ACTACGCCAAGGAGGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 218346994,
"ref": "ACTACGCCAAGGAGGT",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000366930.9",
"consequences": [
{
"aa_ref": "YYAKEV",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.294_308delCTACGCCAAGGAGGT",
"hgvs_p": "p.Tyr99_Val103del",
"transcript": "NM_003238.6",
"protein_id": "NP_003229.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 414,
"cds_start": 294,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": "ENST00000366930.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YYAKEV",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.294_308delCTACGCCAAGGAGGT",
"hgvs_p": "p.Tyr99_Val103del",
"transcript": "ENST00000366930.9",
"protein_id": "ENSP00000355897.4",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 414,
"cds_start": 294,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": "NM_003238.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YYAKEV",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.294_308delCTACGCCAAGGAGGT",
"hgvs_p": "p.Tyr99_Val103del",
"transcript": "ENST00000366929.4",
"protein_id": "ENSP00000355896.4",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 442,
"cds_start": 294,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YYAKEV",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "c.294_308delCTACGCCAAGGAGGT",
"hgvs_p": "p.Tyr99_Val103del",
"transcript": "NM_001135599.4",
"protein_id": "NP_001129071.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 442,
"cds_start": 294,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 5952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "n.1660_1674delCTACGCCAAGGAGGT",
"hgvs_p": null,
"transcript": "NR_138148.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "n.1660_1674delCTACGCCAAGGAGGT",
"hgvs_p": null,
"transcript": "NR_138149.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.238+620_238+634delACCTCCTTGGCGTAG",
"hgvs_p": null,
"transcript": "ENST00000774588.1",
"protein_id": null,
"transcript_support_level": null,
"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": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.31+620_31+634delACCTCCTTGGCGTAG",
"hgvs_p": null,
"transcript": "ENST00000774589.1",
"protein_id": null,
"transcript_support_level": null,
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TGFB2-AS1",
"gene_hgnc_id": 50628,
"hgvs_c": "n.34+620_34+634delACCTCCTTGGCGTAG",
"hgvs_p": null,
"transcript": "ENST00000774590.1",
"protein_id": null,
"transcript_support_level": null,
"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": 289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"hgvs_c": "n.-43_-29delCTACGCCAAGGAGGT",
"hgvs_p": null,
"transcript": "ENST00000488793.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFB2",
"gene_hgnc_id": 11768,
"dbsnp": "rs398122883",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.968,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM4",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366930.9",
"gene_symbol": "TGFB2",
"hgnc_id": 11768,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.294_308delCTACGCCAAGGAGGT",
"hgvs_p": "p.Tyr99_Val103del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000774588.1",
"gene_symbol": "TGFB2-AS1",
"hgnc_id": 50628,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238+620_238+634delACCTCCTTGGCGTAG",
"hgvs_p": null
}
],
"clinvar_disease": "Loeys-Dietz syndrome 4",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Loeys-Dietz syndrome 4",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}