← 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: 13-113160151-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113160151&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PROZ",
"hgnc_id": 9460,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"inheritance_mode": "Unknown",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001256134.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7607,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9731273651123047,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 400,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1203,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003891.3",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375547.7",
"protein_coding": true,
"protein_id": "NP_003882.1",
"strand": true,
"transcript": "NM_003891.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 400,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1203,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000375547.7",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003891.3",
"protein_coding": true,
"protein_id": "ENSP00000364697.2",
"strand": true,
"transcript": "ENST00000375547.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 422,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1269,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000342783.5",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344458.4",
"strand": true,
"transcript": "ENST00000342783.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 449,
"aa_ref": "E",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 394,
"cds_end": null,
"cds_length": 1350,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906454.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Glu119Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576513.1",
"strand": true,
"transcript": "ENST00000906454.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 435,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 286,
"cds_end": null,
"cds_length": 1308,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906465.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576524.1",
"strand": true,
"transcript": "ENST00000906465.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 433,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1302,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906456.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576515.1",
"strand": true,
"transcript": "ENST00000906456.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 427,
"aa_ref": "E",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 328,
"cds_end": null,
"cds_length": 1284,
"cds_start": 289,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906458.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.289G>A",
"hgvs_p": "p.Glu97Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576517.1",
"strand": true,
"transcript": "ENST00000906458.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 422,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1269,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001256134.2",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243063.1",
"strand": true,
"transcript": "NM_001256134.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 416,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 229,
"cds_end": null,
"cds_length": 1251,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906461.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576520.1",
"strand": true,
"transcript": "ENST00000906461.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 415,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1248,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906466.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576525.1",
"strand": true,
"transcript": "ENST00000906466.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 413,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1242,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906464.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576523.1",
"strand": true,
"transcript": "ENST00000906464.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 412,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 290,
"cds_end": null,
"cds_length": 1239,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906460.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576519.1",
"strand": true,
"transcript": "ENST00000906460.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 243,
"cds_end": null,
"cds_length": 1236,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906455.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576514.1",
"strand": true,
"transcript": "ENST00000906455.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1212,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906462.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576521.1",
"strand": true,
"transcript": "ENST00000906462.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 390,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 224,
"cds_end": null,
"cds_length": 1173,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906459.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576518.1",
"strand": true,
"transcript": "ENST00000906459.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 381,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1146,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906463.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576522.1",
"strand": true,
"transcript": "ENST00000906463.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 343,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1032,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906467.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576526.1",
"strand": true,
"transcript": "ENST00000906467.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 334,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1005,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017020813.2",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876302.1",
"strand": true,
"transcript": "XM_017020813.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 236,
"aa_ref": "E",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": 287,
"cds_end": null,
"cds_length": 711,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047430720.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286676.1",
"strand": true,
"transcript": "XM_047430720.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 214,
"aa_ref": "E",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 728,
"cdna_start": 221,
"cds_end": null,
"cds_length": 645,
"cds_start": 208,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047430721.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Glu70Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286677.1",
"strand": true,
"transcript": "XM_047430721.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906457.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.70+1421G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576516.1",
"strand": true,
"transcript": "ENST00000906457.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3024778",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.304,
"pos": 113160151,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.921,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001256134.2"
}
]
}