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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: 12-18688215-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=18688215&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 18688215,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033123.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1465A>T",
"hgvs_p": "p.Ile489Phe",
"transcript": "NM_033123.4",
"protein_id": "NP_149114.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 608,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "ENST00000266505.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1465A>T",
"hgvs_p": "p.Ile489Phe",
"transcript": "ENST00000266505.12",
"protein_id": "ENSP00000266505.7",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 608,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "NM_033123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1588A>T",
"hgvs_p": "p.Ile530Phe",
"transcript": "ENST00000648272.1",
"protein_id": "ENSP00000497636.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 649,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ile296Phe",
"transcript": "ENST00000539875.5",
"protein_id": "ENSP00000445026.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 415,
"cds_start": 886,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1330A>T",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1330A>T",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1153A>T",
"hgvs_p": "p.Ile385Phe",
"transcript": "NM_001330774.2",
"protein_id": "NP_001317703.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 504,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ile296Phe",
"transcript": "NM_001330769.1",
"protein_id": "NP_001317698.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 415,
"cds_start": 886,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.811A>T",
"hgvs_p": "p.Ile271Phe",
"transcript": "ENST00000538330.5",
"protein_id": "ENSP00000445880.1",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 390,
"cds_start": 811,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.670A>T",
"hgvs_p": "p.Ile224Phe",
"transcript": "ENST00000540421.5",
"protein_id": "ENSP00000445889.1",
"transcript_support_level": 3,
"aa_start": 224,
"aa_end": null,
"aa_length": 264,
"cds_start": 670,
"cds_end": null,
"cds_length": 797,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.172A>T",
"hgvs_p": "p.Ile58Phe",
"transcript": "ENST00000536023.1",
"protein_id": "ENSP00000438679.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 100,
"cds_start": 172,
"cds_end": null,
"cds_length": 303,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1588A>T",
"hgvs_p": "p.Ile530Phe",
"transcript": "XM_017020176.2",
"protein_id": "XP_016875665.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 659,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1465A>T",
"hgvs_p": "p.Ile489Phe",
"transcript": "XM_017020177.2",
"protein_id": "XP_016875666.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 618,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1438A>T",
"hgvs_p": "p.Ile480Phe",
"transcript": "XM_017020178.2",
"protein_id": "XP_016875667.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 609,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1024A>T",
"hgvs_p": "p.Ile342Phe",
"transcript": "XM_017020182.2",
"protein_id": "XP_016875671.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 471,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1009A>T",
"hgvs_p": "p.Ile337Phe",
"transcript": "XM_017020183.2",
"protein_id": "XP_016875672.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 466,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1024A>T",
"hgvs_p": "p.Ile342Phe",
"transcript": "XM_024449254.2",
"protein_id": "XP_024305022.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 461,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.877A>T",
"hgvs_p": "p.Ile293Phe",
"transcript": "XM_017020184.2",
"protein_id": "XP_016875673.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 422,
"cds_start": 877,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ile296Phe",
"transcript": "XM_024449255.2",
"protein_id": "XP_024305023.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 415,
"cds_start": 886,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.811A>T",
"hgvs_p": "p.Ile271Phe",
"transcript": "XM_017020185.3",
"protein_id": "XP_016875674.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 400,
"cds_start": 811,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.811A>T",
"hgvs_p": "p.Ile271Phe",
"transcript": "XM_047429828.1",
"protein_id": "XP_047285784.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 400,
"cds_start": 811,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.1078A>T",
"hgvs_p": null,
"transcript": "ENST00000540270.5",
"protein_id": "ENSP00000443320.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.139A>T",
"hgvs_p": null,
"transcript": "ENST00000543219.5",
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},
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}
],
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"dbsnp": "rs757326350",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8344537019729614,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.612,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5288,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.499,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033123.4",
"gene_symbol": "PLCZ1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile489Phe"
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{
"score": 5,
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"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "PLCZ1-related disorder,Spermatogenic failure 17",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Spermatogenic failure 17|PLCZ1-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}