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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: 13-114324473-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=114324473&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 114324473,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000361283.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "NM_032436.4",
"protein_id": "NP_115812.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": "ENST00000361283.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "ENST00000361283.4",
"protein_id": "ENSP00000354730.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": "NM_032436.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "NM_001164144.3",
"protein_id": "NP_001157616.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "NM_001164145.3",
"protein_id": "NP_001157617.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "ENST00000643483.2",
"protein_id": "ENSP00000496699.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 5481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "ENST00000644294.2",
"protein_id": "ENSP00000495985.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "ENST00000645174.2",
"protein_id": "ENSP00000494031.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "ENST00000700527.1",
"protein_id": "ENSP00000515032.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 6314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "ENST00000700528.1",
"protein_id": "ENSP00000515033.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs",
"transcript": "XM_047430277.1",
"protein_id": "XP_047286233.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 812,
"cds_start": 635,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 5524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "n.123+9834delC",
"hgvs_p": null,
"transcript": "ENST00000646155.1",
"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": 193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "n.285+3245delC",
"hgvs_p": null,
"transcript": "ENST00000646956.1",
"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": 355,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"hgvs_c": "c.*195delC",
"hgvs_p": null,
"transcript": "ENST00000463003.2",
"protein_id": "ENSP00000474448.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"dbsnp": "rs797044961",
"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": -0.004,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361283.4",
"gene_symbol": "CHAMP1",
"hgnc_id": 20311,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.635delC",
"hgvs_p": "p.Pro212fs"
}
],
"clinvar_disease": " autosomal dominant 40,Intellectual disability,intellectual disability with severe speech impairment",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "intellectual disability with severe speech impairment|Intellectual disability, autosomal dominant 40",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}