← 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: 2-68252586-G-GGGCGGAGGCGGGGGCGCGCGCGGGCCGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=68252586&ref=G&alt=GGGCGGAGGCGGGGGCGCGCGCGGGCCGGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 68252586,
"ref": "G",
"alt": "GGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"effect": "intron_variant",
"transcript": "ENST00000406334.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273398",
"gene_hgnc_id": null,
"hgvs_c": "n.-28+401_-28+402insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC",
"hgvs_p": null,
"transcript": "ENST00000406334.3",
"protein_id": "ENSP00000384974.3",
"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": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000406334.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1",
"gene_hgnc_id": 9317,
"hgvs_c": "c.60+3469_60+3470insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC",
"hgvs_p": null,
"transcript": "ENST00000409752.5",
"protein_id": "ENSP00000387216.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409752.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.187+852_187+853insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000687213.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000687213.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.132+852_132+853insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000702914.1",
"protein_id": null,
"transcript_support_level": null,
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702914.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.102+937_102+938insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000702987.2",
"protein_id": null,
"transcript_support_level": null,
"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": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000702987.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.121+937_121+938insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798127.1",
"protein_id": null,
"transcript_support_level": null,
"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": 774,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798127.1"
},
{
"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": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.108+937_108+938insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798128.1",
"protein_id": null,
"transcript_support_level": null,
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798128.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.74+937_74+938insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798129.1",
"protein_id": null,
"transcript_support_level": null,
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798129.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.159+852_159+853insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798130.1",
"protein_id": null,
"transcript_support_level": null,
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798130.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.61+937_61+938insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798131.1",
"protein_id": null,
"transcript_support_level": null,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798131.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.112+852_112+853insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798132.1",
"protein_id": null,
"transcript_support_level": null,
"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": 618,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798132.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.143+852_143+853insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null,
"transcript": "ENST00000798133.1",
"protein_id": null,
"transcript_support_level": null,
"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": 538,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798133.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.132+853_132+854insGCGGAGGCGGGGGCGCGCGCGGGCCGGCG",
"hgvs_p": null,
"transcript": "XR_001739526.2",
"protein_id": null,
"transcript_support_level": null,
"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": 508,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739526.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP3R1-AS1",
"gene_hgnc_id": 58298,
"hgvs_c": "n.132+853_132+854insGCGGAGGCGGGGGCGCGCGCGGGCCGGCG",
"hgvs_p": null,
"transcript": "XR_001739527.2",
"protein_id": null,
"transcript_support_level": null,
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739527.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP3R1",
"gene_hgnc_id": 9317,
"hgvs_c": "c.-460_-459insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC",
"hgvs_p": null,
"transcript": "NM_000945.4",
"protein_id": "NP_000936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": "ENST00000234310.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000945.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP3R1",
"gene_hgnc_id": 9317,
"hgvs_c": "c.-460_-459insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC",
"hgvs_p": null,
"transcript": "ENST00000234310.8",
"protein_id": "ENSP00000234310.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": "NM_000945.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234310.8"
}
],
"gene_symbol": "ENSG00000273398",
"gene_hgnc_id": null,
"dbsnp": "rs72174030",
"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": 1.522,
"phylop100way_prediction": "Benign",
"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": "ENST00000406334.3",
"gene_symbol": "ENSG00000273398",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-28+401_-28+402insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409752.5",
"gene_symbol": "PPP3R1",
"hgnc_id": 9317,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.60+3469_60+3470insGCCGGCCCGCGCGCGCCCCCGCCTCCGCC",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000687213.2",
"gene_symbol": "PPP3R1-AS1",
"hgnc_id": 58298,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187+852_187+853insGGCGGAGGCGGGGGCGCGCGCGGGCCGGC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}