← 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: 16-57031209-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57031209&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 57031209,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000688547.1",
"consequences": [
{
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384950.1",
"protein_id": "NP_001371879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1866,
"cds_start": -4,
"cds_end": null,
"cds_length": 5601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6781,
"mane_select": "ENST00000688547.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "ENST00000688547.1",
"protein_id": "ENSP00000509992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1866,
"cds_start": -4,
"cds_end": null,
"cds_length": 5601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6781,
"mane_select": "NM_001384950.1",
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_032206.5",
"protein_id": "NP_115582.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1866,
"cds_start": -4,
"cds_end": null,
"cds_length": 5601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6759,
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "ENST00000262510.10",
"protein_id": "ENSP00000262510.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1866,
"cds_start": -4,
"cds_end": null,
"cds_length": 5601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384952.1",
"protein_id": "NP_001371881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1865,
"cds_start": -4,
"cds_end": null,
"cds_length": 5598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6756,
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384953.1",
"protein_id": "NP_001371882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1865,
"cds_start": -4,
"cds_end": null,
"cds_length": 5598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6778,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384954.1",
"protein_id": "NP_001371883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1838,
"cds_start": -4,
"cds_end": null,
"cds_length": 5517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6697,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001330552.2",
"protein_id": "NP_001317481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6672,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384951.1",
"protein_id": "NP_001371880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6694,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384955.1",
"protein_id": "NP_001371884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6672,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384956.1",
"protein_id": "NP_001371885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6694,
"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": 46,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "ENST00000539144.5",
"protein_id": "ENSP00000441727.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6505,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384957.1",
"protein_id": "NP_001371886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1836,
"cds_start": -4,
"cds_end": null,
"cds_length": 5511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6691,
"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": 47,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384958.1",
"protein_id": "NP_001371887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1808,
"cds_start": -4,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6585,
"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": 47,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384959.1",
"protein_id": "NP_001371888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1807,
"cds_start": -4,
"cds_end": null,
"cds_length": 5424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6604,
"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": 46,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2334-195C>A",
"hgvs_p": null,
"transcript": "NM_001384960.1",
"protein_id": "NP_001371889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1779,
"cds_start": -4,
"cds_end": null,
"cds_length": 5340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6498,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384961.1",
"protein_id": "NP_001371890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4486,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384962.1",
"protein_id": "NP_001371891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4464,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384963.1",
"protein_id": "NP_001371892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1427,
"cds_start": -4,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4461,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384964.1",
"protein_id": "NP_001371893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1427,
"cds_start": -4,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4483,
"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": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2334-195C>A",
"hgvs_p": null,
"transcript": "NM_001384965.1",
"protein_id": "NP_001371894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4380,
"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": 32,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384966.1",
"protein_id": "NP_001371895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": -4,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4377,
"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": 32,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384967.1",
"protein_id": "NP_001371896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1398,
"cds_start": -4,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4374,
"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": 32,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384968.1",
"protein_id": "NP_001371897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1397,
"cds_start": -4,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4371,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384969.1",
"protein_id": "NP_001371898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4767,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384970.1",
"protein_id": "NP_001371899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": -4,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4742,
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384971.1",
"protein_id": "NP_001371900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1356,
"cds_start": -4,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4673,
"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": 32,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2247-195C>A",
"hgvs_p": null,
"transcript": "NM_001384972.1",
"protein_id": "NP_001371901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": -4,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4137,
"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": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.1674-195C>A",
"hgvs_p": null,
"transcript": "ENST00000538805.5",
"protein_id": "ENSP00000442906.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": -4,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3552,
"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": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "NM_001384973.1",
"protein_id": "NP_001371902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": -4,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4067,
"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": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.939-195C>A",
"hgvs_p": null,
"transcript": "ENST00000538110.5",
"protein_id": "ENSP00000441597.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
"cds_end": null,
"cds_length": 2656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.315-195C>A",
"hgvs_p": null,
"transcript": "ENST00000543030.5",
"protein_id": "ENSP00000440153.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.*303-195C>A",
"hgvs_p": null,
"transcript": "ENST00000539881.5",
"protein_id": "ENSP00000441679.1",
"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": 4777,
"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": 44,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.1599-195C>A",
"hgvs_p": null,
"transcript": "ENST00000545081.5",
"protein_id": "ENSP00000443825.1",
"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": 5832,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2632-195C>A",
"hgvs_p": null,
"transcript": "NR_169512.1",
"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": 6720,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2624-195C>A",
"hgvs_p": null,
"transcript": "NR_169513.1",
"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": 6712,
"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": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2495-195C>A",
"hgvs_p": null,
"transcript": "NR_169514.1",
"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": 4375,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2598-195C>A",
"hgvs_p": null,
"transcript": "NR_169515.1",
"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": 6680,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2632-195C>A",
"hgvs_p": null,
"transcript": "NR_169516.1",
"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": 6843,
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2606-195C>A",
"hgvs_p": null,
"transcript": "NR_169517.1",
"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": 6836,
"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": 49,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2646-195C>A",
"hgvs_p": null,
"transcript": "NR_169518.1",
"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": 6818,
"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": 50,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2584-195C>A",
"hgvs_p": null,
"transcript": "NR_169519.1",
"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": 7049,
"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": 48,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2654-195C>A",
"hgvs_p": null,
"transcript": "NR_169520.1",
"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": 6742,
"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": 46,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2334-195C>A",
"hgvs_p": null,
"transcript": "XM_047434760.1",
"protein_id": "XP_047290716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1838,
"cds_start": -4,
"cds_end": null,
"cds_length": 5517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6521,
"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": 46,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2334-195C>A",
"hgvs_p": null,
"transcript": "XM_047434761.1",
"protein_id": "XP_047290717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6518,
"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": 46,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "XM_047434762.1",
"protein_id": "XP_047290718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1836,
"cds_start": -4,
"cds_end": null,
"cds_length": 5511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6515,
"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": 46,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "XM_047434763.1",
"protein_id": "XP_047290719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1835,
"cds_start": -4,
"cds_end": null,
"cds_length": 5508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6512,
"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": 45,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2334-195C>A",
"hgvs_p": null,
"transcript": "XM_047434764.1",
"protein_id": "XP_047290720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1807,
"cds_start": -4,
"cds_end": null,
"cds_length": 5424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6428,
"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": 31,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "XM_017023770.2",
"protein_id": "XP_016879259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1405,
"cds_start": -4,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"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": 32,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "XM_006721300.3",
"protein_id": "XP_006721363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4268,
"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": 32,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null,
"transcript": "XM_047434765.1",
"protein_id": "XP_047290721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": -4,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4315,
"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": 29,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "c.2334-195C>A",
"hgvs_p": null,
"transcript": "XM_047434766.1",
"protein_id": "XP_047290722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4139,
"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": 29,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"hgvs_c": "n.2430-195C>A",
"hgvs_p": null,
"transcript": "XR_001752000.2",
"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": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLRC5",
"gene_hgnc_id": 29933,
"dbsnp": "rs16965220",
"frequency_reference_population": 0.28906557,
"hom_count_reference_population": 6618,
"allele_count_reference_population": 43953,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.289066,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 43953,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6618,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.033,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000688547.1",
"gene_symbol": "NLRC5",
"hgnc_id": 29933,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2418-195C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}