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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: 12-132859165-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132859165&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132859165,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000450056.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Ile",
"transcript": "NM_001161346.2",
"protein_id": "NP_001154818.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 652,
"cds_start": 814,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 11228,
"mane_select": "ENST00000450056.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Ile",
"transcript": "ENST00000450056.7",
"protein_id": "ENSP00000398735.2",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 652,
"cds_start": 814,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 11228,
"mane_select": "NM_001161346.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "ENST00000432561.6",
"protein_id": "ENSP00000392395.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 664,
"cds_start": 850,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "n.250G>A",
"hgvs_p": null,
"transcript": "ENST00000315585.11",
"protein_id": "ENSP00000320557.8",
"transcript_support_level": 2,
"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": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "NM_001161344.1",
"protein_id": "NP_001154816.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 664,
"cds_start": 850,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "NM_001161345.1",
"protein_id": "NP_001154817.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 663,
"cds_start": 850,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "NM_018223.2",
"protein_id": "NP_060693.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 623,
"cds_start": 727,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Val243Ile",
"transcript": "ENST00000266880.11",
"protein_id": "ENSP00000266880.8",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 623,
"cds_start": 727,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 11133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Val192Ile",
"transcript": "NM_001161347.1",
"protein_id": "NP_001154819.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 572,
"cds_start": 574,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Val192Ile",
"transcript": "ENST00000443047.6",
"protein_id": "ENSP00000416431.2",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 572,
"cds_start": 574,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "n.501G>A",
"hgvs_p": null,
"transcript": "ENST00000535897.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 587,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"hgvs_c": "c.*20G>A",
"hgvs_p": null,
"transcript": "ENST00000541817.5",
"protein_id": "ENSP00000445371.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHFR",
"gene_hgnc_id": 20455,
"dbsnp": "rs199761208",
"frequency_reference_population": 0.000065677945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 106,
"gnomad_exomes_af": 0.0000704642,
"gnomad_genomes_af": 0.0000197109,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051852256059646606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.195,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000450056.7",
"gene_symbol": "CHFR",
"hgnc_id": 20455,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}