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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: 2-25743912-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=25743912&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 25743912,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000435504.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.2424delC",
"hgvs_p": "p.Thr809fs",
"transcript": "NM_018263.6",
"protein_id": "NP_060733.4",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2424,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 12849,
"mane_select": "ENST00000435504.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.2424delC",
"hgvs_p": "p.Thr809fs",
"transcript": "ENST00000435504.9",
"protein_id": "ENSP00000391447.3",
"transcript_support_level": 5,
"aa_start": 808,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2424,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2689,
"cdna_end": null,
"cdna_length": 12849,
"mane_select": "NM_018263.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.2421delC",
"hgvs_p": "p.Thr808fs",
"transcript": "ENST00000336112.9",
"protein_id": "ENSP00000337250.5",
"transcript_support_level": 1,
"aa_start": 807,
"aa_end": null,
"aa_length": 1434,
"cds_start": 2421,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.1644delC",
"hgvs_p": "p.Thr549fs",
"transcript": "ENST00000404843.5",
"protein_id": "ENSP00000383920.1",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 918,
"cds_start": 1644,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.2250delC",
"hgvs_p": "p.Thr751fs",
"transcript": "NM_001369346.1",
"protein_id": "NP_001356275.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 1377,
"cds_start": 2250,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 12532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.1644delC",
"hgvs_p": "p.Thr549fs",
"transcript": "NM_001369347.1",
"protein_id": "NP_001356276.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1644,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 12467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"hgvs_c": "c.*65delC",
"hgvs_p": null,
"transcript": "ENST00000673455.1",
"protein_id": "ENSP00000500467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASXL2",
"gene_hgnc_id": 23805,
"dbsnp": "rs886041065",
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.49,
"phylop100way_prediction": "Benign",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000435504.9",
"gene_symbol": "ASXL2",
"hgnc_id": 23805,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2424delC",
"hgvs_p": "p.Thr809fs"
}
],
"clinvar_disease": "Shashi-Pena syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Shashi-Pena syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}