← 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: X-154560412-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154560412&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154560412,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000594239.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_001099857.5",
"protein_id": "NP_001093327.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "ENST00000594239.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000594239.6",
"protein_id": "ENSP00000471166.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "NM_001099857.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Gln",
"transcript": "ENST00000618670.4",
"protein_id": "ENSP00000483825.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 487,
"cds_start": 728,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000611071.4",
"protein_id": "ENSP00000479662.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 782,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*516G>A",
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*516G>A",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.200-2398G>A",
"hgvs_p": null,
"transcript": "ENST00000617838.1",
"protein_id": null,
"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": 285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Gln",
"transcript": "NM_001099856.6",
"protein_id": "NP_001093326.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 487,
"cds_start": 728,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194Gln",
"transcript": "ENST00000692948.1",
"protein_id": "ENSP00000508773.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 438,
"cds_start": 581,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_001321396.3",
"protein_id": "NP_001308325.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_001377312.1",
"protein_id": "NP_001364241.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_003639.4",
"protein_id": "NP_003630.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000422680.6",
"protein_id": "ENSP00000390368.3",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000440286.6",
"protein_id": "ENSP00000394934.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000445622.6",
"protein_id": "ENSP00000395205.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "NM_001321397.3",
"protein_id": "NP_001308326.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 418,
"cds_start": 521,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "NM_001377313.1",
"protein_id": "NP_001364242.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 418,
"cds_start": 521,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "ENST00000617207.4",
"protein_id": "ENSP00000484023.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 418,
"cds_start": 521,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000619941.4",
"protein_id": "ENSP00000478979.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 412,
"cds_start": 524,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "ENST00000615874.4",
"protein_id": "ENSP00000483381.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 411,
"cds_start": 521,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"transcript": "ENST00000413620.6",
"protein_id": "ENSP00000398579.2",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 407,
"cds_start": 488,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"transcript": "ENST00000615186.5",
"protein_id": "ENSP00000479144.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 285,
"cds_start": 122,
"cds_end": null,
"cds_length": 858,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1001,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.896G>A",
"hgvs_p": null,
"transcript": "ENST00000687445.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2514,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.899G>A",
"hgvs_p": null,
"transcript": "ENST00000692816.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1223,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.899G>A",
"hgvs_p": null,
"transcript": "ENST00000693029.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.519-1276G>A",
"hgvs_p": null,
"transcript": "ENST00000689906.1",
"protein_id": "ENSP00000508630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.516-1276G>A",
"hgvs_p": null,
"transcript": "NM_001377314.1",
"protein_id": "NP_001364243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.519-1276G>A",
"hgvs_p": null,
"transcript": "NM_001145255.4",
"protein_id": "NP_001138727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.519-1276G>A",
"hgvs_p": null,
"transcript": "ENST00000611176.4",
"protein_id": "ENSP00000478616.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.400-2398G>A",
"hgvs_p": null,
"transcript": "NM_001377315.1",
"protein_id": "NP_001364244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*53-1276G>A",
"hgvs_p": null,
"transcript": "ENST00000686774.1",
"protein_id": "ENSP00000510218.1",
"transcript_support_level": null,
"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": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.541-1276G>A",
"hgvs_p": null,
"transcript": "NR_165197.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"dbsnp": "rs179363868",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00000300891,
"gnomad_genomes_af": 0.00000982405,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47159337997436523,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.327,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.738,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM1"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000594239.6",
"gene_symbol": "IKBKG",
"hgnc_id": 5961,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}