← 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: 11-112028857-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112028857&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 112028857,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000280346.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001931.5",
"protein_id": "NP_001922.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 647,
"cds_start": 572,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": "ENST00000280346.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000280346.11",
"protein_id": "ENSP00000280346.7",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 647,
"cds_start": 572,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": "NM_001931.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001372031.1",
"protein_id": "NP_001358960.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 653,
"cds_start": 572,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000713569.1",
"protein_id": "ENSP00000518862.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 647,
"cds_start": 572,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001372032.1",
"protein_id": "NP_001358961.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 645,
"cds_start": 572,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000681316.1",
"protein_id": "ENSP00000506560.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 645,
"cds_start": 572,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001372033.1",
"protein_id": "NP_001358962.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 640,
"cds_start": 572,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000681328.1",
"protein_id": "ENSP00000506355.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 640,
"cds_start": 572,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Ala180Gly",
"transcript": "NM_001372034.1",
"protein_id": "NP_001358963.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 636,
"cds_start": 539,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Ala180Gly",
"transcript": "ENST00000679878.1",
"protein_id": "ENSP00000505567.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 636,
"cds_start": 539,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001372035.1",
"protein_id": "NP_001358964.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 611,
"cds_start": 572,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000681339.1",
"protein_id": "ENSP00000506167.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 611,
"cds_start": 572,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.446C>G",
"hgvs_p": "p.Ala149Gly",
"transcript": "NM_001372036.1",
"protein_id": "NP_001358965.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 605,
"cds_start": 446,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Ala135Gly",
"transcript": "NM_001372037.1",
"protein_id": "NP_001358966.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 591,
"cds_start": 404,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.317C>G",
"hgvs_p": "p.Ala106Gly",
"transcript": "ENST00000680411.1",
"protein_id": "ENSP00000505915.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 562,
"cds_start": 317,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001372039.1",
"protein_id": "NP_001358968.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 542,
"cds_start": 572,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "ENST00000393051.5",
"protein_id": "ENSP00000376771.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 542,
"cds_start": 572,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly",
"transcript": "NM_001372041.1",
"protein_id": "NP_001358970.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 506,
"cds_start": 572,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.110C>G",
"hgvs_p": "p.Ala37Gly",
"transcript": "NM_001372042.1",
"protein_id": "NP_001358971.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 493,
"cds_start": 110,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.619C>G",
"hgvs_p": null,
"transcript": "ENST00000527231.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.*247C>G",
"hgvs_p": null,
"transcript": "ENST00000533297.1",
"protein_id": "ENSP00000435374.1",
"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": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.572C>G",
"hgvs_p": null,
"transcript": "ENST00000679368.1",
"protein_id": "ENSP00000505314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.619C>G",
"hgvs_p": null,
"transcript": "ENST00000679466.1",
"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": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.572C>G",
"hgvs_p": null,
"transcript": "ENST00000679815.1",
"protein_id": "ENSP00000504880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.619C>G",
"hgvs_p": null,
"transcript": "ENST00000679829.1",
"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": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.572C>G",
"hgvs_p": null,
"transcript": "ENST00000680010.1",
"protein_id": "ENSP00000505768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.572C>G",
"hgvs_p": null,
"transcript": "ENST00000681638.1",
"protein_id": "ENSP00000506090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.637C>G",
"hgvs_p": null,
"transcript": "NR_164072.1",
"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": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.*247C>G",
"hgvs_p": null,
"transcript": "ENST00000533297.1",
"protein_id": "ENSP00000435374.1",
"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": 2118,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.381+2558C>G",
"hgvs_p": null,
"transcript": "NM_001372038.1",
"protein_id": "NP_001358967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3599,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.381+2558C>G",
"hgvs_p": null,
"transcript": "ENST00000680331.1",
"protein_id": "ENSP00000506707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.364+2575C>G",
"hgvs_p": null,
"transcript": "NM_001372040.1",
"protein_id": "NP_001358969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3497,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.364+2575C>G",
"hgvs_p": null,
"transcript": "ENST00000531306.2",
"protein_id": "ENSP00000433432.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1931,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.25-56C>G",
"hgvs_p": null,
"transcript": "ENST00000679614.1",
"protein_id": "ENSP00000506007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"dbsnp": "rs200500508",
"frequency_reference_population": 0.0000012391374,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84055e-7,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10175386071205139,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
"alphamissense_score": 0.0939,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.621,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000280346.11",
"gene_symbol": "DLAT",
"hgnc_id": 2896,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ala191Gly"
}
],
"clinvar_disease": "Pyruvate dehydrogenase E2 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Pyruvate dehydrogenase E2 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}