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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: 13-113164537-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113164537&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113164537,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001256134.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "NM_003891.3",
"protein_id": "NP_003882.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 400,
"cds_start": 398,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375547.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003891.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000375547.7",
"protein_id": "ENSP00000364697.2",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 400,
"cds_start": 398,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003891.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375547.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "ENST00000342783.5",
"protein_id": "ENSP00000344458.4",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 422,
"cds_start": 464,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342783.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.545G>T",
"hgvs_p": "p.Arg182Leu",
"transcript": "ENST00000906454.1",
"protein_id": "ENSP00000576513.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 449,
"cds_start": 545,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906454.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "ENST00000906465.1",
"protein_id": "ENSP00000576524.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 435,
"cds_start": 464,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906465.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.497G>T",
"hgvs_p": "p.Arg166Leu",
"transcript": "ENST00000906456.1",
"protein_id": "ENSP00000576515.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 433,
"cds_start": 497,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906456.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.479G>T",
"hgvs_p": "p.Arg160Leu",
"transcript": "ENST00000906458.1",
"protein_id": "ENSP00000576517.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 427,
"cds_start": 479,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906458.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "NM_001256134.2",
"protein_id": "NP_001243063.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 422,
"cds_start": 464,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256134.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.446G>T",
"hgvs_p": "p.Arg149Leu",
"transcript": "ENST00000906461.1",
"protein_id": "ENSP00000576520.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 416,
"cds_start": 446,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906461.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.443G>T",
"hgvs_p": "p.Arg148Leu",
"transcript": "ENST00000906466.1",
"protein_id": "ENSP00000576525.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 415,
"cds_start": 443,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906466.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000906464.1",
"protein_id": "ENSP00000576523.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 413,
"cds_start": 398,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906464.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "ENST00000906460.1",
"protein_id": "ENSP00000576519.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 412,
"cds_start": 464,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906460.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.431G>T",
"hgvs_p": "p.Arg144Leu",
"transcript": "ENST00000906455.1",
"protein_id": "ENSP00000576514.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 411,
"cds_start": 431,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906455.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "ENST00000906459.1",
"protein_id": "ENSP00000576518.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 390,
"cds_start": 398,
"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": "ENST00000906459.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.209G>T",
"hgvs_p": "p.Arg70Leu",
"transcript": "ENST00000906457.1",
"protein_id": "ENSP00000576516.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 337,
"cds_start": 209,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906457.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "XM_017020813.2",
"protein_id": "XP_016876302.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 334,
"cds_start": 464,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020813.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "XM_047430720.1",
"protein_id": "XP_047286676.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 236,
"cds_start": 464,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430720.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.398G>T",
"hgvs_p": "p.Arg133Leu",
"transcript": "XM_047430721.1",
"protein_id": "XP_047286677.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 214,
"cds_start": 398,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430721.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.440-33G>T",
"hgvs_p": null,
"transcript": "ENST00000906462.1",
"protein_id": "ENSP00000576521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906462.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.374-33G>T",
"hgvs_p": null,
"transcript": "ENST00000906463.1",
"protein_id": "ENSP00000576522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906463.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "c.260-33G>T",
"hgvs_p": null,
"transcript": "ENST00000906467.1",
"protein_id": "ENSP00000576526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"hgvs_c": "n.19G>T",
"hgvs_p": null,
"transcript": "ENST00000493630.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493630.1"
}
],
"gene_symbol": "PROZ",
"gene_hgnc_id": 9460,
"dbsnp": "rs763340899",
"frequency_reference_population": 0.000066945606,
"hom_count_reference_population": 1,
"allele_count_reference_population": 108,
"gnomad_exomes_af": 0.0000608866,
"gnomad_genomes_af": 0.000125399,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6042709946632385,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.086,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001256134.2",
"gene_symbol": "PROZ",
"hgnc_id": 9460,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}