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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: 13-114324597-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=114324597&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 114324597,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000361283.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_032436.4",
"protein_id": "NP_115812.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": "ENST00000361283.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000361283.4",
"protein_id": "ENSP00000354730.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": "NM_032436.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001164144.3",
"protein_id": "NP_001157616.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "NM_001164145.3",
"protein_id": "NP_001157617.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000643483.2",
"protein_id": "ENSP00000496699.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 5481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000644294.2",
"protein_id": "ENSP00000495985.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000645174.2",
"protein_id": "ENSP00000494031.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 3773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000700527.1",
"protein_id": "ENSP00000515032.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3589,
"cdna_end": null,
"cdna_length": 6314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "ENST00000700528.1",
"protein_id": "ENSP00000515033.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.755C>T",
"hgvs_p": "p.Ala252Val",
"transcript": "XM_047430277.1",
"protein_id": "XP_047286233.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 812,
"cds_start": 755,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2799,
"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+9954C>T",
"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+3365C>T",
"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
}
],
"gene_symbol": "CHAMP1",
"gene_hgnc_id": 20311,
"dbsnp": "rs114331585",
"frequency_reference_population": 0.00035993464,
"hom_count_reference_population": 3,
"allele_count_reference_population": 581,
"gnomad_exomes_af": 0.000164856,
"gnomad_genomes_af": 0.00223238,
"gnomad_exomes_ac": 241,
"gnomad_genomes_ac": 340,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005539119243621826,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0918,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.929,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000361283.4",
"gene_symbol": "CHAMP1",
"hgnc_id": 20311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Ala252Val"
}
],
"clinvar_disease": "CHAMP1-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided|CHAMP1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}