← 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: 11-773594-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=773594&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 773594,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000319863.13",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_182612.4",
"protein_id": "NP_872418.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 220,
"cds_start": 283,
"cds_end": null,
"cds_length": 663,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "ENST00000319863.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000319863.13",
"protein_id": "ENSP00000321691.8",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 220,
"cds_start": 283,
"cds_end": null,
"cds_length": 663,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "NM_182612.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000397472.6",
"protein_id": "ENSP00000380612.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 250,
"cds_start": 283,
"cds_end": null,
"cds_length": 753,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.227C>A",
"hgvs_p": null,
"transcript": "ENST00000529966.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.229C>A",
"hgvs_p": null,
"transcript": "ENST00000532320.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.228C>A",
"hgvs_p": null,
"transcript": "ENST00000532839.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.283C>A",
"hgvs_p": null,
"transcript": "ENST00000534603.5",
"protein_id": "ENSP00000436861.1",
"transcript_support_level": 1,
"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": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.247+414C>A",
"hgvs_p": null,
"transcript": "ENST00000524550.5",
"protein_id": "ENSP00000431183.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_001318821.2",
"protein_id": "NP_001305750.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 219,
"cds_start": 283,
"cds_end": null,
"cds_length": 660,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "NM_001410955.1",
"protein_id": "NP_001397884.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 186,
"cds_start": 283,
"cds_end": null,
"cds_length": 561,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "ENST00000526325.5",
"protein_id": "ENSP00000433322.1",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 186,
"cds_start": 283,
"cds_end": null,
"cds_length": 561,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.133C>A",
"hgvs_p": "p.Pro45Thr",
"transcript": "NM_001318818.2",
"protein_id": "NP_001305747.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 170,
"cds_start": 133,
"cds_end": null,
"cds_length": 513,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.133C>A",
"hgvs_p": "p.Pro45Thr",
"transcript": "NM_001318823.2",
"protein_id": "NP_001305752.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 169,
"cds_start": 133,
"cds_end": null,
"cds_length": 510,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.97C>A",
"hgvs_p": "p.Pro33Thr",
"transcript": "ENST00000528309.5",
"protein_id": "ENSP00000437068.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 162,
"cds_start": 97,
"cds_end": null,
"cds_length": 489,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.55C>A",
"hgvs_p": "p.Pro19Thr",
"transcript": "ENST00000526650.5",
"protein_id": "ENSP00000434839.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 55,
"cds_end": null,
"cds_length": 435,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "XM_017017662.2",
"protein_id": "XP_016873151.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 210,
"cds_start": 283,
"cds_end": null,
"cds_length": 633,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr",
"transcript": "XM_011520064.3",
"protein_id": "XP_011518366.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 189,
"cds_start": 283,
"cds_end": null,
"cds_length": 570,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.133C>A",
"hgvs_p": "p.Pro45Thr",
"transcript": "XM_017017668.2",
"protein_id": "XP_016873157.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 139,
"cds_start": 133,
"cds_end": null,
"cds_length": 420,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.305C>A",
"hgvs_p": null,
"transcript": "ENST00000528602.1",
"protein_id": null,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.231C>A",
"hgvs_p": null,
"transcript": "NR_134867.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.308C>A",
"hgvs_p": null,
"transcript": "NR_134868.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.247+414C>A",
"hgvs_p": null,
"transcript": "NM_001318824.2",
"protein_id": "NP_001305753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.247+414C>A",
"hgvs_p": null,
"transcript": "NM_001318820.2",
"protein_id": "NP_001305749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.97+414C>A",
"hgvs_p": null,
"transcript": "NM_001318822.2",
"protein_id": "NP_001305751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.247+414C>A",
"hgvs_p": null,
"transcript": "ENST00000354286.8",
"protein_id": "ENSP00000346239.4",
"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": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "c.247+414C>A",
"hgvs_p": null,
"transcript": "XM_047426880.1",
"protein_id": "XP_047282836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"hgvs_c": "n.272+414C>A",
"hgvs_p": null,
"transcript": "XR_242802.4",
"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": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GATD1",
"gene_hgnc_id": 26616,
"dbsnp": "rs772277463",
"frequency_reference_population": 0.000010293856,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102939,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7423697710037231,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.686,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2356,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.355,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000319863.13",
"gene_symbol": "GATD1",
"hgnc_id": 26616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Pro95Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}