← 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: 16-12664975-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=12664975&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPPED1",
"hgnc_id": 25632,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018340.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 132,
"alphamissense_prediction": null,
"alphamissense_score": 0.0987,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0871133804321289,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 314,
"aa_ref": "E",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6143,
"cdna_start": 967,
"cds_end": null,
"cds_length": 945,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_018340.3",
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381774.9",
"protein_coding": true,
"protein_id": "NP_060810.2",
"strand": false,
"transcript": "NM_018340.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 314,
"aa_ref": "E",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6143,
"cdna_start": 967,
"cds_end": null,
"cds_length": 945,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000381774.9",
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018340.3",
"protein_coding": true,
"protein_id": "ENSP00000371193.4",
"strand": false,
"transcript": "ENST00000381774.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 172,
"aa_ref": "E",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 505,
"cds_end": null,
"cds_length": 519,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000433677.6",
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Glu144Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411127.2",
"strand": false,
"transcript": "ENST00000433677.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 329,
"aa_ref": "E",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 982,
"cds_end": null,
"cds_length": 990,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898262.1",
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568321.1",
"strand": false,
"transcript": "ENST00000898262.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 172,
"aa_ref": "E",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5717,
"cdna_start": 541,
"cds_end": null,
"cds_length": 519,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001099455.2",
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Glu144Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092925.1",
"strand": false,
"transcript": "NM_001099455.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 122,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 410,
"cds_end": null,
"cds_length": 369,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000261660.4",
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261660.4",
"strand": false,
"transcript": "ENST00000261660.4",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376818351",
"effect": "missense_variant",
"frequency_reference_population": 0.0000819377,
"gene_hgnc_id": 25632,
"gene_symbol": "CPPED1",
"gnomad_exomes_ac": 123,
"gnomad_exomes_af": 0.0000843107,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 9,
"gnomad_genomes_af": 0.0000591755,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.591,
"pos": 12664975,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.225,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018340.3"
}
]
}