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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: 13-113171786-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113171786&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PROZ",
"hgnc_id": 9460,
"hgvs_c": "c.950G>T",
"hgvs_p": "p.Arg317Leu",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001256134.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PCID2",
"hgnc_id": 25653,
"hgvs_c": "n.1870C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_001749631.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1394,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5714339017868042,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1203,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003891.3",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.884G>T",
"hgvs_p": "p.Arg295Leu",
"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": "L",
"aa_end": null,
"aa_length": 400,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1203,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000375547.7",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.884G>T",
"hgvs_p": "p.Arg295Leu",
"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": "L",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1269,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000342783.5",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.950G>T",
"hgvs_p": "p.Arg317Leu",
"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": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906454.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.1031G>T",
"hgvs_p": "p.Arg344Leu",
"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": "L",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1308,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906465.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.989G>T",
"hgvs_p": "p.Arg330Leu",
"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": "L",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1302,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906456.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.983G>T",
"hgvs_p": "p.Arg328Leu",
"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": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1284,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906458.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.965G>T",
"hgvs_p": "p.Arg322Leu",
"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": "L",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1563,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1269,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001256134.2",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.950G>T",
"hgvs_p": "p.Arg317Leu",
"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": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1251,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906461.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.932G>T",
"hgvs_p": "p.Arg311Leu",
"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": "L",
"aa_end": null,
"aa_length": 415,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1248,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906466.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.929G>T",
"hgvs_p": "p.Arg310Leu",
"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": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1242,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906464.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.923G>T",
"hgvs_p": "p.Arg308Leu",
"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": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1239,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906460.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.920G>T",
"hgvs_p": "p.Arg307Leu",
"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": "L",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1236,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906455.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.917G>T",
"hgvs_p": "p.Arg306Leu",
"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": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1212,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906462.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.893G>T",
"hgvs_p": "p.Arg298Leu",
"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": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1173,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906459.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.854G>T",
"hgvs_p": "p.Arg285Leu",
"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": "L",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1146,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906463.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu",
"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": "L",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1032,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906467.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"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": "L",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1014,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906457.1",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"intron_rank": null,
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 334,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": null,
"cds_end": null,
"cds_length": 1005,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020813.2",
"gene_hgnc_id": 9460,
"gene_symbol": "PROZ",
"hgvs_c": "c.889+61G>T",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XR_001749631.2",
"gene_hgnc_id": 25653,
"gene_symbol": "PCID2",
"hgvs_c": "n.1870C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001749631.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
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