← 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: 12-107702952-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=107702952&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 107702952,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007062.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "NM_007062.3",
"protein_id": "NP_008993.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 501,
"cds_start": 824,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412830.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007062.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000412830.8",
"protein_id": "ENSP00000387365.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 501,
"cds_start": 824,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007062.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412830.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000920794.1",
"protein_id": "ENSP00000590853.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 524,
"cds_start": 824,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920794.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ala272Val",
"transcript": "ENST00000920793.1",
"protein_id": "ENSP00000590852.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 498,
"cds_start": 815,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920793.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ala271Val",
"transcript": "ENST00000945394.1",
"protein_id": "ENSP00000615453.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 497,
"cds_start": 812,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945394.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Ala238Val",
"transcript": "ENST00000867450.1",
"protein_id": "ENSP00000537509.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 464,
"cds_start": 713,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867450.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000945395.1",
"protein_id": "ENSP00000615454.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 443,
"cds_start": 824,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945395.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ala213Val",
"transcript": "NM_001317962.2",
"protein_id": "NP_001304891.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 439,
"cds_start": 638,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317962.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Ala213Val",
"transcript": "ENST00000541166.1",
"protein_id": "ENSP00000445249.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 439,
"cds_start": 638,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541166.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.188C>T",
"hgvs_p": "p.Ala63Val",
"transcript": "NM_001317963.2",
"protein_id": "NP_001304892.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 289,
"cds_start": 188,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317963.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.745-733C>T",
"hgvs_p": null,
"transcript": "ENST00000920796.1",
"protein_id": "ENSP00000590855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": null,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"hgvs_c": "c.744+5355C>T",
"hgvs_p": null,
"transcript": "ENST00000920795.1",
"protein_id": "ENSP00000590854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920795.1"
}
],
"gene_symbol": "PWP1",
"gene_hgnc_id": 17015,
"dbsnp": "rs759499506",
"frequency_reference_population": 0.0000034330944,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000343309,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8873838782310486,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.401,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9541,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.849,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007062.3",
"gene_symbol": "PWP1",
"hgnc_id": 17015,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val"
}
],
"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
}