← 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: 17-63704536-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63704536&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63704536,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000336174.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Thr302Asn",
"transcript": "NM_001003787.4",
"protein_id": "NP_001003787.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 431,
"cds_start": 905,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "ENST00000336174.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Thr302Asn",
"transcript": "ENST00000336174.12",
"protein_id": "ENSP00000336655.6",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 431,
"cds_start": 905,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "NM_001003787.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "ENST00000375840.9",
"protein_id": "ENSP00000365000.4",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 373,
"cds_start": 731,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "ENST00000392950.9",
"protein_id": "ENSP00000376677.4",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 348,
"cds_start": 794,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*819C>A",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"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": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*343C>A",
"hgvs_p": null,
"transcript": "ENST00000245865.10",
"protein_id": "ENSP00000245865.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*819C>A",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"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": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>A",
"hgvs_p": "p.Thr294Asn",
"transcript": "NM_001363786.1",
"protein_id": "NP_001350715.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 423,
"cds_start": 881,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Thr302Asn",
"transcript": "ENST00000638193.1",
"protein_id": "ENSP00000491928.1",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 403,
"cds_start": 905,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>A",
"hgvs_p": "p.Thr273Asn",
"transcript": "NM_001363787.1",
"protein_id": "NP_001350716.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 402,
"cds_start": 818,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>A",
"hgvs_p": "p.Thr273Asn",
"transcript": "ENST00000638708.1",
"protein_id": "ENSP00000491580.1",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 402,
"cds_start": 818,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "NM_001003786.3",
"protein_id": "NP_001003786.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 394,
"cds_start": 794,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "ENST00000639835.1",
"protein_id": "ENSP00000492578.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 394,
"cds_start": 794,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "ENST00000640999.1",
"protein_id": "ENSP00000491643.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 394,
"cds_start": 794,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "NM_001003788.3",
"protein_id": "NP_001003788.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 373,
"cds_start": 731,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "ENST00000638702.1",
"protein_id": "ENSP00000491017.1",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 373,
"cds_start": 731,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "NM_153335.6",
"protein_id": "NP_699166.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 348,
"cds_start": 794,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "ENST00000640979.1",
"protein_id": "ENSP00000491485.1",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 345,
"cds_start": 731,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Thr302Asn",
"transcript": "NM_001363788.1",
"protein_id": "NP_001350717.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 343,
"cds_start": 905,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Thr302Asn",
"transcript": "ENST00000638888.1",
"protein_id": "ENSP00000491528.1",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 343,
"cds_start": 905,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>A",
"hgvs_p": "p.Thr294Asn",
"transcript": "ENST00000640174.1",
"protein_id": "ENSP00000491380.1",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
"aa_length": 324,
"cds_start": 881,
"cds_end": null,
"cds_length": 976,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>A",
"hgvs_p": "p.Thr273Asn",
"transcript": "NM_001165969.2",
"protein_id": "NP_001159441.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 314,
"cds_start": 818,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>A",
"hgvs_p": "p.Thr273Asn",
"transcript": "ENST00000582137.6",
"protein_id": "ENSP00000462922.1",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 314,
"cds_start": 818,
"cds_end": null,
"cds_length": 945,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "NM_001363789.1",
"protein_id": "NP_001350718.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 306,
"cds_start": 794,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.794C>A",
"hgvs_p": "p.Thr265Asn",
"transcript": "ENST00000640086.1",
"protein_id": "ENSP00000492238.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 306,
"cds_start": 794,
"cds_end": null,
"cds_length": 921,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "NM_001363790.1",
"protein_id": "NP_001350719.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 300,
"cds_start": 731,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.773C>A",
"hgvs_p": "p.Thr258Asn",
"transcript": "NM_001165970.2",
"protein_id": "NP_001159442.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 299,
"cds_start": 773,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.773C>A",
"hgvs_p": "p.Thr258Asn",
"transcript": "ENST00000447001.8",
"protein_id": "ENSP00000398841.3",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 299,
"cds_start": 773,
"cds_end": null,
"cds_length": 900,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "NM_001363791.1",
"protein_id": "NP_001350720.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 285,
"cds_start": 731,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Thr244Asn",
"transcript": "ENST00000638276.1",
"protein_id": "ENSP00000491922.1",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 285,
"cds_start": 731,
"cds_end": null,
"cds_length": 858,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.785C>A",
"hgvs_p": "p.Thr262Asn",
"transcript": "ENST00000639135.1",
"protein_id": "ENSP00000491843.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 264,
"cds_start": 785,
"cds_end": null,
"cds_length": 795,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 914,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.1228C>A",
"hgvs_p": null,
"transcript": "ENST00000579318.2",
"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": 1307,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*658C>A",
"hgvs_p": null,
"transcript": "ENST00000580039.6",
"protein_id": "ENSP00000491249.1",
"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": 998,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.1989C>A",
"hgvs_p": null,
"transcript": "ENST00000583085.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3685,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000639521.1",
"protein_id": "ENSP00000492087.1",
"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": 952,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.2326C>A",
"hgvs_p": null,
"transcript": "ENST00000640183.1",
"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": 2378,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000640827.1",
"protein_id": "ENSP00000492499.1",
"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": 1596,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000640870.1",
"protein_id": "ENSP00000492479.1",
"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": 1687,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.836C>A",
"hgvs_p": null,
"transcript": "NR_156741.2",
"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": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*343C>A",
"hgvs_p": null,
"transcript": "NM_001411083.1",
"protein_id": "NP_001398012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*343C>A",
"hgvs_p": null,
"transcript": "ENST00000638309.1",
"protein_id": "ENSP00000492877.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*343C>A",
"hgvs_p": null,
"transcript": "NM_001411084.1",
"protein_id": "NP_001398013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*354C>A",
"hgvs_p": null,
"transcript": "NM_001411085.1",
"protein_id": "NP_001398014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*354C>A",
"hgvs_p": null,
"transcript": "ENST00000578801.6",
"protein_id": "ENSP00000463872.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000579340.5",
"protein_id": "ENSP00000462530.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*658C>A",
"hgvs_p": null,
"transcript": "ENST00000580039.6",
"protein_id": "ENSP00000491249.1",
"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": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000639521.1",
"protein_id": "ENSP00000492087.1",
"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": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000640827.1",
"protein_id": "ENSP00000492499.1",
"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": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*37C>A",
"hgvs_p": null,
"transcript": "ENST00000640870.1",
"protein_id": "ENSP00000492479.1",
"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": 1687,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.859-785C>A",
"hgvs_p": null,
"transcript": "ENST00000638698.1",
"protein_id": "ENSP00000491082.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1302,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.859-785C>A",
"hgvs_p": null,
"transcript": "ENST00000640679.1",
"protein_id": "ENSP00000491092.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1816,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.687-785C>A",
"hgvs_p": null,
"transcript": "ENST00000640397.1",
"protein_id": "ENSP00000492379.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.-83C>A",
"hgvs_p": null,
"transcript": "ENST00000582026.2",
"protein_id": "ENSP00000464213.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*343C>A",
"hgvs_p": null,
"transcript": "ENST00000578008.6",
"protein_id": "ENSP00000464547.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"dbsnp": "rs761948281",
"frequency_reference_population": 0.000001913441,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000140806,
"gnomad_genomes_af": 0.00000678132,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29461008310317993,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.1949,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.194,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000336174.12",
"gene_symbol": "STRADA",
"hgnc_id": 30172,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.905C>A",
"hgvs_p": "p.Thr302Asn"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000580553.1",
"gene_symbol": "ENSG00000125695",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*819C>A",
"hgvs_p": null
}
],
"clinvar_disease": " and symptomatic epilepsy, megalencephaly,Polyhydramnios",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Polyhydramnios, megalencephaly, and symptomatic epilepsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}