← 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: 11-46357892-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46357892&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46357892,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_201532.3",
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "NM_001199267.2",
"protein_id": "NP_001186196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": "ENST00000456247.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199267.2"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000456247.7",
"protein_id": "ENSP00000395684.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": "NM_001199267.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456247.7"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000527911.5",
"protein_id": "ENSP00000436291.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": null,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527911.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000421244.6",
"protein_id": "ENSP00000391021.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421244.6"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-8352T>C",
"hgvs_p": null,
"transcript": "ENST00000926265.1",
"protein_id": "ENSP00000596324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1170,
"cds_start": null,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926265.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000926270.1",
"protein_id": "ENSP00000596329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926270.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878699.1",
"protein_id": "ENSP00000548758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": null,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878699.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878705.1",
"protein_id": "ENSP00000548764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878705.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.213-9399T>C",
"hgvs_p": null,
"transcript": "NM_201532.3",
"protein_id": "NP_963290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201532.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.213-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000343674.10",
"protein_id": "ENSP00000343065.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343674.10"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000946824.1",
"protein_id": "ENSP00000616883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": null,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946824.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878701.1",
"protein_id": "ENSP00000548760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": null,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878701.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "NM_001199266.2",
"protein_id": "NP_001186195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": null,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199266.2"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.177-9399T>C",
"hgvs_p": null,
"transcript": "NM_201533.3",
"protein_id": "NP_963291.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201533.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.177-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000532868.6",
"protein_id": "ENSP00000436273.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532868.6"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878702.1",
"protein_id": "ENSP00000548761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": null,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878702.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "NM_003646.4",
"protein_id": "NP_003637.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 929,
"cds_start": null,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003646.4"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878700.1",
"protein_id": "ENSP00000548759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878700.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000926268.1",
"protein_id": "ENSP00000596327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926268.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000946825.1",
"protein_id": "ENSP00000616884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946825.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000926266.1",
"protein_id": "ENSP00000596325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": null,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926266.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000946826.1",
"protein_id": "ENSP00000616885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946826.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878698.1",
"protein_id": "ENSP00000548757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": null,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878698.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000926269.1",
"protein_id": "ENSP00000596328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": null,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926269.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000926267.1",
"protein_id": "ENSP00000596326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926267.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878703.1",
"protein_id": "ENSP00000548762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": null,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878703.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000878704.1",
"protein_id": "ENSP00000548763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878704.1"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "NM_001199268.2",
"protein_id": "NP_001186197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": null,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199268.2"
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.162-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000318201.12",
"protein_id": "ENSP00000320340.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": null,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318201.12"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.-222-11602T>C",
"hgvs_p": null,
"transcript": "ENST00000528615.5",
"protein_id": "ENSP00000434719.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528615.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "c.-199-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000525242.5",
"protein_id": "ENSP00000435332.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 15,
"cds_start": null,
"cds_end": null,
"cds_length": 50,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525242.5"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.60-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000524984.5",
"protein_id": "ENSP00000437060.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524984.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.153-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000527674.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527674.5"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.155-9399T>C",
"hgvs_p": null,
"transcript": "ENST00000531879.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531879.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"hgvs_c": "n.161+10072T>C",
"hgvs_p": null,
"transcript": "ENST00000533376.5",
"protein_id": "ENSP00000435435.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533376.5"
}
],
"gene_symbol": "DGKZ",
"gene_hgnc_id": 2857,
"dbsnp": "rs11038871",
"frequency_reference_population": 0.4266224,
"hom_count_reference_population": 18434,
"allele_count_reference_population": 64885,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.426622,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 64885,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 18434,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.142,
"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": "NM_201532.3",
"gene_symbol": "DGKZ",
"hgnc_id": 2857,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.213-9399T>C",
"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
}