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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: X-154564450-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154564450&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154564450,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000594239.6",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "NM_001099857.5",
"protein_id": "NP_001093327.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "ENST00000594239.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "ENST00000594239.6",
"protein_id": "ENSP00000471166.1",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "NM_001099857.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1453T>C",
"hgvs_p": "p.Cys485Arg",
"transcript": "ENST00000618670.4",
"protein_id": "ENSP00000483825.1",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 487,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "ENST00000611071.4",
"protein_id": "ENSP00000479662.1",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*1241T>C",
"hgvs_p": null,
"transcript": "ENST00000612051.1",
"protein_id": "ENSP00000480431.1",
"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": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*1241T>C",
"hgvs_p": null,
"transcript": "ENST00000612051.1",
"protein_id": "ENSP00000480431.1",
"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": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1453T>C",
"hgvs_p": "p.Cys485Arg",
"transcript": "NM_001099856.6",
"protein_id": "NP_001093326.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 487,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Cys436Arg",
"transcript": "ENST00000692948.1",
"protein_id": "ENSP00000508773.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 438,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "NM_001321396.3",
"protein_id": "NP_001308325.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "NM_001377312.1",
"protein_id": "NP_001364241.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "NM_003639.4",
"protein_id": "NP_003630.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "ENST00000422680.6",
"protein_id": "ENSP00000390368.3",
"transcript_support_level": 2,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "ENST00000440286.6",
"protein_id": "ENSP00000394934.2",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1249T>C",
"hgvs_p": "p.Cys417Arg",
"transcript": "ENST00000445622.6",
"protein_id": "ENSP00000395205.2",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 419,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Cys416Arg",
"transcript": "NM_001321397.3",
"protein_id": "NP_001308326.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 418,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Cys416Arg",
"transcript": "NM_001377313.1",
"protein_id": "NP_001364242.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 418,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Cys416Arg",
"transcript": "ENST00000617207.4",
"protein_id": "ENSP00000484023.1",
"transcript_support_level": 3,
"aa_start": 416,
"aa_end": null,
"aa_length": 418,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1228T>C",
"hgvs_p": "p.Cys410Arg",
"transcript": "ENST00000619941.4",
"protein_id": "ENSP00000478979.1",
"transcript_support_level": 5,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1225T>C",
"hgvs_p": "p.Cys409Arg",
"transcript": "ENST00000615874.4",
"protein_id": "ENSP00000483381.1",
"transcript_support_level": 5,
"aa_start": 409,
"aa_end": null,
"aa_length": 411,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1213T>C",
"hgvs_p": "p.Cys405Arg",
"transcript": "ENST00000413620.6",
"protein_id": "ENSP00000398579.2",
"transcript_support_level": 5,
"aa_start": 405,
"aa_end": null,
"aa_length": 407,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1096T>C",
"hgvs_p": "p.Cys366Arg",
"transcript": "ENST00000689906.1",
"protein_id": "ENSP00000508630.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 368,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.1093T>C",
"hgvs_p": "p.Cys365Arg",
"transcript": "NM_001377314.1",
"protein_id": "NP_001364243.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 367,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "NM_001145255.4",
"protein_id": "NP_001138727.1",
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{
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},
{
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}
],
"gene_symbol": "IKBKG",
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"dbsnp": "rs137853325",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8807512521743774,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.87,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.77,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.1,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000594239.6",
"gene_symbol": "IKBKG",
"hgnc_id": 5961,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
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"hgvs_p": "p.Cys417Arg"
}
],
"clinvar_disease": "Ectodermal dysplasia and immunodeficiency 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ectodermal dysplasia and immunodeficiency 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}