← 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: 11-65376514-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65376514&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65376514,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182556.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_182556.4",
"protein_id": "NP_872362.4",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398802.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182556.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000398802.6",
"protein_id": "ENSP00000381782.1",
"transcript_support_level": 5,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182556.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398802.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "ENST00000534028.5",
"protein_id": "ENSP00000431769.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 264,
"cds_start": 688,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534028.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Arg",
"transcript": "ENST00000294187.10",
"protein_id": "ENSP00000294187.6",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 246,
"cds_start": 634,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294187.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Gly192Arg",
"transcript": "ENST00000526432.5",
"protein_id": "ENSP00000435547.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 226,
"cds_start": 574,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526432.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "NM_001352381.2",
"protein_id": "NP_001339310.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352381.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000527174.5",
"protein_id": "ENSP00000435489.1",
"transcript_support_level": 3,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527174.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000909312.1",
"protein_id": "ENSP00000579371.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909312.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000909313.1",
"protein_id": "ENSP00000579372.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909313.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg",
"transcript": "ENST00000966869.1",
"protein_id": "ENSP00000636928.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 288,
"cds_start": 760,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966869.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Arg",
"transcript": "NM_001278250.3",
"protein_id": "NP_001265179.3",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 264,
"cds_start": 688,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278250.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Arg",
"transcript": "NM_001077241.3",
"protein_id": "NP_001070709.3",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 246,
"cds_start": 634,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077241.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Arg",
"transcript": "NM_001278251.3",
"protein_id": "NP_001265180.3",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 246,
"cds_start": 634,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278251.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Gly212Arg",
"transcript": "NM_001352382.2",
"protein_id": "NP_001339311.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 246,
"cds_start": 634,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352382.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Gly192Arg",
"transcript": "NM_001300820.2",
"protein_id": "NP_001287749.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 226,
"cds_start": 574,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300820.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Arg",
"transcript": "NM_001352383.2",
"protein_id": "NP_001339312.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 184,
"cds_start": 448,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352383.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "c.448G>A",
"hgvs_p": "p.Gly150Arg",
"transcript": "NM_001352384.2",
"protein_id": "NP_001339313.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 184,
"cds_start": 448,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352384.2"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD8",
"gene_hgnc_id": 25462,
"hgvs_c": "c.20+1177C>T",
"hgvs_p": null,
"transcript": "XM_047427683.1",
"protein_id": "XP_047283639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427683.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD8",
"gene_hgnc_id": 25462,
"hgvs_c": "c.-97-3262C>T",
"hgvs_p": null,
"transcript": "XM_047427684.1",
"protein_id": "XP_047283640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": null,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.*814G>A",
"hgvs_p": null,
"transcript": "ENST00000526898.5",
"protein_id": "ENSP00000434582.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526898.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.5798G>A",
"hgvs_p": null,
"transcript": "ENST00000531791.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.1159G>A",
"hgvs_p": null,
"transcript": "NR_147972.2",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147972.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.1070G>A",
"hgvs_p": null,
"transcript": "NR_147973.2",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147973.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.*814G>A",
"hgvs_p": null,
"transcript": "ENST00000526898.5",
"protein_id": "ENSP00000434582.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526898.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.1348+22G>A",
"hgvs_p": null,
"transcript": "ENST00000534338.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000534338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"hgvs_c": "n.*780G>A",
"hgvs_p": null,
"transcript": "ENST00000533629.5",
"protein_id": "ENSP00000431891.1",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533629.5"
}
],
"gene_symbol": "SLC25A45",
"gene_hgnc_id": 27442,
"dbsnp": "rs1013921256",
"frequency_reference_population": 0.0000030977014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9927210807800293,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.965,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.561,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_182556.4",
"gene_symbol": "SLC25A45",
"hgnc_id": 27442,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Gly254Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_047427683.1",
"gene_symbol": "FRMD8",
"hgnc_id": 25462,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20+1177C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}