← 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: 14-105529712-TGCCGCCGCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105529712&ref=TGCCGCCGCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105529712,
"ref": "TGCCGCCGCC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_025268.4",
"consequences": [
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "NM_025268.4",
"protein_id": "NP_079544.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392519.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025268.4"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000392519.7",
"protein_id": "ENSP00000376304.2",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025268.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392519.7"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "NM_001331238.2",
"protein_id": "NP_001318167.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331238.2"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000903730.1",
"protein_id": "ENSP00000573789.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903730.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000903731.1",
"protein_id": "ENSP00000573790.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903731.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000903732.1",
"protein_id": "ENSP00000573791.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903732.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000903733.1",
"protein_id": "ENSP00000573792.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903733.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000903734.1",
"protein_id": "ENSP00000573793.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903734.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000903735.1",
"protein_id": "ENSP00000573794.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903735.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000941521.1",
"protein_id": "ENSP00000611580.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941521.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000941522.1",
"protein_id": "ENSP00000611581.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941522.1"
},
{
"aa_ref": "PPPL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del",
"transcript": "ENST00000941523.1",
"protein_id": "ENSP00000611582.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 319,
"cds_start": 890,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941523.1"
}
],
"gene_symbol": "TMEM121",
"gene_hgnc_id": 20511,
"dbsnp": "rs10569304",
"frequency_reference_population": 0.00009885007,
"hom_count_reference_population": 0,
"allele_count_reference_population": 151,
"gnomad_exomes_af": 0.000102479,
"gnomad_genomes_af": 0.0000659335,
"gnomad_exomes_ac": 141,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 4.999,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_025268.4",
"gene_symbol": "TMEM121",
"hgnc_id": 20511,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.890_898delCGCCGCCGC",
"hgvs_p": "p.Pro297_Pro299del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}