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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: 4-150285975-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150285975&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 150285975,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000651943.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8077G>A",
"hgvs_p": "p.Ala2693Thr",
"transcript": "NM_001364905.1",
"protein_id": "NP_001351834.1",
"transcript_support_level": null,
"aa_start": 2693,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8077,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8379,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "ENST00000651943.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8077G>A",
"hgvs_p": "p.Ala2693Thr",
"transcript": "ENST00000651943.2",
"protein_id": "ENSP00000498582.2",
"transcript_support_level": null,
"aa_start": 2693,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8077,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8379,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "NM_001364905.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8110G>A",
"hgvs_p": "p.Ala2704Thr",
"transcript": "ENST00000357115.9",
"protein_id": "ENSP00000349629.3",
"transcript_support_level": 1,
"aa_start": 2704,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8110,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8584,
"cdna_end": null,
"cdna_length": 10353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8074G>A",
"hgvs_p": "p.Ala2692Thr",
"transcript": "ENST00000510413.5",
"protein_id": "ENSP00000421552.1",
"transcript_support_level": 1,
"aa_start": 2692,
"aa_end": null,
"aa_length": 2851,
"cds_start": 8074,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 8359,
"cdna_end": null,
"cdna_length": 10032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Ala599Thr",
"transcript": "ENST00000503716.5",
"protein_id": "ENSP00000513123.1",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 758,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3712,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.4747G>A",
"hgvs_p": null,
"transcript": "ENST00000515096.6",
"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": 6292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8125G>A",
"hgvs_p": "p.Ala2709Thr",
"transcript": "NM_001440430.1",
"protein_id": "NP_001427359.1",
"transcript_support_level": null,
"aa_start": 2709,
"aa_end": null,
"aa_length": 2868,
"cds_start": 8125,
"cds_end": null,
"cds_length": 8607,
"cdna_start": 8427,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8110G>A",
"hgvs_p": "p.Ala2704Thr",
"transcript": "NM_006726.5",
"protein_id": "NP_006717.2",
"transcript_support_level": null,
"aa_start": 2704,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8110,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8584,
"cdna_end": null,
"cdna_length": 10353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8092G>A",
"hgvs_p": "p.Ala2698Thr",
"transcript": "NM_001367550.1",
"protein_id": "NP_001354479.1",
"transcript_support_level": null,
"aa_start": 2698,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8092,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8566,
"cdna_end": null,
"cdna_length": 10335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8092G>A",
"hgvs_p": "p.Ala2698Thr",
"transcript": "NM_001440431.1",
"protein_id": "NP_001427360.1",
"transcript_support_level": null,
"aa_start": 2698,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8092,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8394,
"cdna_end": null,
"cdna_length": 10163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8092G>A",
"hgvs_p": "p.Ala2698Thr",
"transcript": "ENST00000651695.2",
"protein_id": "ENSP00000498254.2",
"transcript_support_level": null,
"aa_start": 2698,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8092,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8343,
"cdna_end": null,
"cdna_length": 9880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8074G>A",
"hgvs_p": "p.Ala2692Thr",
"transcript": "NM_001199282.3",
"protein_id": "NP_001186211.2",
"transcript_support_level": null,
"aa_start": 2692,
"aa_end": null,
"aa_length": 2851,
"cds_start": 8074,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 8376,
"cdna_end": null,
"cdna_length": 10145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Ala810Thr",
"transcript": "ENST00000697128.1",
"protein_id": "ENSP00000513126.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 968,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Ala599Thr",
"transcript": "NM_001440432.1",
"protein_id": "NP_001427361.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 758,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Ala597Thr",
"transcript": "NM_001440433.1",
"protein_id": "NP_001427362.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 756,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Ala584Thr",
"transcript": "ENST00000697127.1",
"protein_id": "ENSP00000513124.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 743,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1811,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1570G>A",
"hgvs_p": "p.Ala524Thr",
"transcript": "ENST00000648878.1",
"protein_id": "ENSP00000497002.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 686,
"cds_start": 1570,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Ala340Thr",
"transcript": "ENST00000648626.1",
"protein_id": "ENSP00000513125.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 499,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Ala49Thr",
"transcript": "ENST00000508606.1",
"protein_id": "ENSP00000425852.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 146,
"cds_start": 145,
"cds_end": null,
"cds_length": 441,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8125G>A",
"hgvs_p": "p.Ala2709Thr",
"transcript": "XM_005263373.4",
"protein_id": "XP_005263430.1",
"transcript_support_level": null,
"aa_start": 2709,
"aa_end": null,
"aa_length": 2868,
"cds_start": 8125,
"cds_end": null,
"cds_length": 8607,
"cdna_start": 8599,
"cdna_end": null,
"cdna_length": 10368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8110G>A",
"hgvs_p": "p.Ala2704Thr",
"transcript": "XM_011532434.3",
"protein_id": "XP_011530736.1",
"transcript_support_level": null,
"aa_start": 2704,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8110,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8412,
"cdna_end": null,
"cdna_length": 10181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "c.8077G>A",
"hgvs_p": "p.Ala2693Thr",
"transcript": "XM_047416462.1",
"protein_id": "XP_047272418.1",
"transcript_support_level": null,
"aa_start": 2693,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8077,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8551,
"cdna_end": null,
"cdna_length": 10320,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.693G>A",
"hgvs_p": null,
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},
{
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"protein_coding": false,
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"exon_count": 17,
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},
{
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},
{
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{
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"consequences": [
"3_prime_UTR_variant"
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},
{
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"3_prime_UTR_variant"
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}
],
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"dbsnp": "rs3749574",
"frequency_reference_population": 0.27258635,
"hom_count_reference_population": 64008,
"allele_count_reference_population": 434881,
"gnomad_exomes_af": 0.279152,
"gnomad_genomes_af": 0.210299,
"gnomad_exomes_ac": 402889,
"gnomad_genomes_ac": 31992,
"gnomad_exomes_homalt": 59881,
"gnomad_genomes_homalt": 4127,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0063249170780181885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0685,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.953,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000651943.2",
"gene_symbol": "LRBA",
"hgnc_id": 1742,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8077G>A",
"hgvs_p": "p.Ala2693Thr"
}
],
"clinvar_disease": "Combined immunodeficiency due to LRBA deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Combined immunodeficiency due to LRBA deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}