← 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: 11-791939-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=791939&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 791939,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001425334.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "NM_001191061.2",
"protein_id": "NP_001177990.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000628067.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191061.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000628067.3",
"protein_id": "ENSP00000486058.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001191061.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628067.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000320230.9",
"protein_id": "ENSP00000322020.5",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320230.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.1023G>T",
"hgvs_p": "p.Gly341Gly",
"transcript": "NM_001425334.1",
"protein_id": "NP_001412263.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 348,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425334.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.1023G>T",
"hgvs_p": "p.Gly341Gly",
"transcript": "ENST00000860087.1",
"protein_id": "ENSP00000530146.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 348,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860087.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.987G>T",
"hgvs_p": "p.Gly329Gly",
"transcript": "NM_001425335.1",
"protein_id": "NP_001412264.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 336,
"cds_start": 987,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425335.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.963G>T",
"hgvs_p": "p.Gly321Gly",
"transcript": "NM_001425336.1",
"protein_id": "NP_001412265.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 328,
"cds_start": 963,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425336.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.960G>T",
"hgvs_p": "p.Gly320Gly",
"transcript": "ENST00000948531.1",
"protein_id": "ENSP00000618590.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 327,
"cds_start": 960,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948531.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "NM_001191060.2",
"protein_id": "NP_001177989.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191060.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "NM_001425337.1",
"protein_id": "NP_001412266.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425337.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "NM_001425338.1",
"protein_id": "NP_001412267.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425338.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "NM_001425339.1",
"protein_id": "NP_001412268.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425339.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "NM_024698.6",
"protein_id": "NP_078974.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024698.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000531214.5",
"protein_id": "ENSP00000437236.1",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531214.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860084.1",
"protein_id": "ENSP00000530143.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860084.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860086.1",
"protein_id": "ENSP00000530145.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860086.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860088.1",
"protein_id": "ENSP00000530147.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860088.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860089.1",
"protein_id": "ENSP00000530148.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860089.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860091.1",
"protein_id": "ENSP00000530150.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860091.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860092.1",
"protein_id": "ENSP00000530151.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860092.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000860094.1",
"protein_id": "ENSP00000530153.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860094.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937623.1",
"protein_id": "ENSP00000607682.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937623.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937624.1",
"protein_id": "ENSP00000607683.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937624.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937626.1",
"protein_id": "ENSP00000607685.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937626.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937627.1",
"protein_id": "ENSP00000607686.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937627.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937628.1",
"protein_id": "ENSP00000607687.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937628.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937630.1",
"protein_id": "ENSP00000607689.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937630.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937631.1",
"protein_id": "ENSP00000607690.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937631.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000937632.1",
"protein_id": "ENSP00000607691.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937632.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000948529.1",
"protein_id": "ENSP00000618588.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948529.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000948530.1",
"protein_id": "ENSP00000618589.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948530.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "ENST00000948533.1",
"protein_id": "ENSP00000618592.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948533.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.945G>T",
"hgvs_p": "p.Gly315Gly",
"transcript": "NM_001425340.1",
"protein_id": "NP_001412269.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 322,
"cds_start": 945,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425340.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "NM_001425341.1",
"protein_id": "NP_001412270.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425341.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "ENST00000860085.1",
"protein_id": "ENSP00000530144.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860085.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "ENST00000860090.1",
"protein_id": "ENSP00000530149.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860090.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "ENST00000860093.1",
"protein_id": "ENSP00000530152.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860093.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "ENST00000860095.1",
"protein_id": "ENSP00000530154.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860095.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "ENST00000937629.1",
"protein_id": "ENSP00000607688.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937629.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Gly312Gly",
"transcript": "ENST00000948532.1",
"protein_id": "ENSP00000618591.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 319,
"cds_start": 936,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948532.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000937625.1",
"protein_id": "ENSP00000607684.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 303,
"cds_start": 888,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937625.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.630G>T",
"hgvs_p": "p.Gly210Gly",
"transcript": "NM_001425344.1",
"protein_id": "NP_001412273.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 217,
"cds_start": 630,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425344.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_011520370.3",
"protein_id": "XP_011518672.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520370.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_024448687.2",
"protein_id": "XP_024304455.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448687.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_024448688.2",
"protein_id": "XP_024304456.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448688.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_024448689.2",
"protein_id": "XP_024304457.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448689.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_047427599.1",
"protein_id": "XP_047283555.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427599.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_047427600.1",
"protein_id": "XP_047283556.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427600.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.948G>T",
"hgvs_p": "p.Gly316Gly",
"transcript": "XM_047427601.1",
"protein_id": "XP_047283557.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 323,
"cds_start": 948,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.*92G>T",
"hgvs_p": null,
"transcript": "NM_001425342.1",
"protein_id": "NP_001412271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.*128G>T",
"hgvs_p": null,
"transcript": "NM_001425343.1",
"protein_id": "NP_001412272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"hgvs_c": "c.*84G>T",
"hgvs_p": null,
"transcript": "ENST00000481290.5",
"protein_id": "ENSP00000431829.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481290.5"
}
],
"gene_symbol": "SLC25A22",
"gene_hgnc_id": 19954,
"dbsnp": "rs1554965239",
"frequency_reference_population": 0.000004137577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000413758,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.82,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001425334.1",
"gene_symbol": "SLC25A22",
"hgnc_id": 19954,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1023G>T",
"hgvs_p": "p.Gly341Gly"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}