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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: 4-150286028-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150286028&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 150286028,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651943.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"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.8024C>T",
"hgvs_p": "p.Thr2675Ile",
"transcript": "NM_001364905.1",
"protein_id": "NP_001351834.1",
"transcript_support_level": null,
"aa_start": 2675,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8024,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8326,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "ENST00000651943.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8024C>T",
"hgvs_p": "p.Thr2675Ile",
"transcript": "ENST00000651943.2",
"protein_id": "ENSP00000498582.2",
"transcript_support_level": null,
"aa_start": 2675,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8024,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8326,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": "NM_001364905.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8057C>T",
"hgvs_p": "p.Thr2686Ile",
"transcript": "ENST00000357115.9",
"protein_id": "ENSP00000349629.3",
"transcript_support_level": 1,
"aa_start": 2686,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8057,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8531,
"cdna_end": null,
"cdna_length": 10353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8021C>T",
"hgvs_p": "p.Thr2674Ile",
"transcript": "ENST00000510413.5",
"protein_id": "ENSP00000421552.1",
"transcript_support_level": 1,
"aa_start": 2674,
"aa_end": null,
"aa_length": 2851,
"cds_start": 8021,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 8306,
"cdna_end": null,
"cdna_length": 10032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.1742C>T",
"hgvs_p": "p.Thr581Ile",
"transcript": "ENST00000503716.5",
"protein_id": "ENSP00000513123.1",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 758,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2114,
"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.4694C>T",
"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": "T",
"aa_alt": "I",
"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.8072C>T",
"hgvs_p": "p.Thr2691Ile",
"transcript": "NM_001440430.1",
"protein_id": "NP_001427359.1",
"transcript_support_level": null,
"aa_start": 2691,
"aa_end": null,
"aa_length": 2868,
"cds_start": 8072,
"cds_end": null,
"cds_length": 8607,
"cdna_start": 8374,
"cdna_end": null,
"cdna_length": 10196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8057C>T",
"hgvs_p": "p.Thr2686Ile",
"transcript": "NM_006726.5",
"protein_id": "NP_006717.2",
"transcript_support_level": null,
"aa_start": 2686,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8057,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8531,
"cdna_end": null,
"cdna_length": 10353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8039C>T",
"hgvs_p": "p.Thr2680Ile",
"transcript": "NM_001367550.1",
"protein_id": "NP_001354479.1",
"transcript_support_level": null,
"aa_start": 2680,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8039,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8513,
"cdna_end": null,
"cdna_length": 10335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8039C>T",
"hgvs_p": "p.Thr2680Ile",
"transcript": "NM_001440431.1",
"protein_id": "NP_001427360.1",
"transcript_support_level": null,
"aa_start": 2680,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8039,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8341,
"cdna_end": null,
"cdna_length": 10163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8039C>T",
"hgvs_p": "p.Thr2680Ile",
"transcript": "ENST00000651695.2",
"protein_id": "ENSP00000498254.2",
"transcript_support_level": null,
"aa_start": 2680,
"aa_end": null,
"aa_length": 2857,
"cds_start": 8039,
"cds_end": null,
"cds_length": 8574,
"cdna_start": 8290,
"cdna_end": null,
"cdna_length": 9880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8021C>T",
"hgvs_p": "p.Thr2674Ile",
"transcript": "NM_001199282.3",
"protein_id": "NP_001186211.2",
"transcript_support_level": null,
"aa_start": 2674,
"aa_end": null,
"aa_length": 2851,
"cds_start": 8021,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 8323,
"cdna_end": null,
"cdna_length": 10145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.2375C>T",
"hgvs_p": "p.Thr792Ile",
"transcript": "ENST00000697128.1",
"protein_id": "ENSP00000513126.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 968,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.1742C>T",
"hgvs_p": "p.Thr581Ile",
"transcript": "NM_001440432.1",
"protein_id": "NP_001427361.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 758,
"cds_start": 1742,
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"cdna_start": 2159,
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"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.1736C>T",
"hgvs_p": "p.Thr579Ile",
"transcript": "NM_001440433.1",
"protein_id": "NP_001427362.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 756,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.1697C>T",
"hgvs_p": "p.Thr566Ile",
"transcript": "ENST00000697127.1",
"protein_id": "ENSP00000513124.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 743,
"cds_start": 1697,
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"cdna_start": 1758,
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"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.1517C>T",
"hgvs_p": "p.Thr506Ile",
"transcript": "ENST00000648878.1",
"protein_id": "ENSP00000497002.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 686,
"cds_start": 1517,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.965C>T",
"hgvs_p": "p.Thr322Ile",
"transcript": "ENST00000648626.1",
"protein_id": "ENSP00000513125.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 499,
"cds_start": 965,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.92C>T",
"hgvs_p": "p.Thr31Ile",
"transcript": "ENST00000508606.1",
"protein_id": "ENSP00000425852.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 146,
"cds_start": 92,
"cds_end": null,
"cds_length": 441,
"cdna_start": 94,
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"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8072C>T",
"hgvs_p": "p.Thr2691Ile",
"transcript": "XM_005263373.4",
"protein_id": "XP_005263430.1",
"transcript_support_level": null,
"aa_start": 2691,
"aa_end": null,
"aa_length": 2868,
"cds_start": 8072,
"cds_end": null,
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"cdna_start": 8546,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8057C>T",
"hgvs_p": "p.Thr2686Ile",
"transcript": "XM_011532434.3",
"protein_id": "XP_011530736.1",
"transcript_support_level": null,
"aa_start": 2686,
"aa_end": null,
"aa_length": 2863,
"cds_start": 8057,
"cds_end": null,
"cds_length": 8592,
"cdna_start": 8359,
"cdna_end": null,
"cdna_length": 10181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.8024C>T",
"hgvs_p": "p.Thr2675Ile",
"transcript": "XM_047416462.1",
"protein_id": "XP_047272418.1",
"transcript_support_level": null,
"aa_start": 2675,
"aa_end": null,
"aa_length": 2852,
"cds_start": 8024,
"cds_end": null,
"cds_length": 8559,
"cdna_start": 8498,
"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,
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"transcript": "ENST00000510157.2",
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"transcript_support_level": 5,
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"cds_start": -4,
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"cdna_length": 1871,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
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"transcript": "ENST00000648823.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 54,
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"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.*2385C>T",
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"transcript": "ENST00000651035.1",
"protein_id": "ENSP00000498673.1",
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"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": 9674,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
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"hgvs_c": "n.424C>T",
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"transcript": "ENST00000697130.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
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"hgvs_c": "n.*1027C>T",
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"transcript": "ENST00000648823.1",
"protein_id": "ENSP00000498057.1",
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},
{
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"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 54,
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"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"hgvs_c": "n.*2385C>T",
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"transcript": "ENST00000651035.1",
"protein_id": "ENSP00000498673.1",
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"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": 9674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRBA",
"gene_hgnc_id": 1742,
"dbsnp": "rs202244838",
"frequency_reference_population": 0.00095121603,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1490,
"gnomad_exomes_af": 0.00098496,
"gnomad_genomes_af": 0.000637546,
"gnomad_exomes_ac": 1393,
"gnomad_genomes_ac": 97,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020421862602233887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.896,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651943.2",
"gene_symbol": "LRBA",
"hgnc_id": 1742,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8024C>T",
"hgvs_p": "p.Thr2675Ile"
}
],
"clinvar_disease": "Combined immunodeficiency due to LRBA deficiency,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7 O:1",
"phenotype_combined": "not provided|Combined immunodeficiency due to LRBA deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}