← 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: 5-126465544-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126465544&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 126465544,
"ref": "T",
"alt": "C",
"effect": "start_lost,splice_region_variant",
"transcript": "NM_001349543.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "NM_023927.4",
"protein_id": "NP_076416.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 432,
"cds_start": 202,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285689.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023927.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "ENST00000285689.8",
"protein_id": "ENSP00000285689.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 432,
"cds_start": 202,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285689.8"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "ENST00000921003.1",
"protein_id": "ENSP00000591062.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 456,
"cds_start": 202,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921003.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Trp83Arg",
"transcript": "NM_001146319.3",
"protein_id": "NP_001139791.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 447,
"cds_start": 247,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146319.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Trp83Arg",
"transcript": "ENST00000513040.5",
"protein_id": "ENSP00000426120.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 447,
"cds_start": 247,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513040.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "NM_001349541.2",
"protein_id": "NP_001336470.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 433,
"cds_start": 202,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349541.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "ENST00000880471.1",
"protein_id": "ENSP00000550530.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 433,
"cds_start": 202,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880471.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Trp52Arg",
"transcript": "NM_001349542.2",
"protein_id": "NP_001336471.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 417,
"cds_start": 154,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349542.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "ENST00000971359.1",
"protein_id": "ENSP00000641418.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 417,
"cds_start": 202,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971359.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Trp52Arg",
"transcript": "NM_001146322.3",
"protein_id": "NP_001139794.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 416,
"cds_start": 154,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146322.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Trp52Arg",
"transcript": "ENST00000511134.1",
"protein_id": "ENSP00000426088.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 416,
"cds_start": 154,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511134.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Cys68Arg",
"transcript": "ENST00000515200.5",
"protein_id": "ENSP00000426143.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 410,
"cds_start": 202,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515200.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "ENST00000880472.1",
"protein_id": "ENSP00000550531.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 400,
"cds_start": 202,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880472.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Cys68Arg",
"transcript": "ENST00000971358.1",
"protein_id": "ENSP00000641417.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 377,
"cds_start": 202,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971358.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "ENST00000880473.1",
"protein_id": "ENSP00000550532.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 375,
"cds_start": 202,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880473.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349543.2",
"protein_id": "NP_001336472.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 329,
"cds_start": 2,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349543.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001146320.3",
"protein_id": "NP_001139792.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 328,
"cds_start": 2,
"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_001146320.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000544396.5",
"protein_id": "ENSP00000444049.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 328,
"cds_start": 2,
"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": "ENST00000544396.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000502348.5",
"protein_id": "ENSP00000427596.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"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": "ENST00000502348.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.244T>C",
"hgvs_p": "p.Trp82Arg",
"transcript": "ENST00000506445.5",
"protein_id": "ENSP00000424985.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 287,
"cds_start": 244,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506445.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Trp83Arg",
"transcript": "XM_011543593.3",
"protein_id": "XP_011541895.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 448,
"cds_start": 247,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543593.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.244T>C",
"hgvs_p": "p.Trp82Arg",
"transcript": "XM_005272057.5",
"protein_id": "XP_005272114.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 447,
"cds_start": 244,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272057.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.244T>C",
"hgvs_p": "p.Trp82Arg",
"transcript": "XM_005272058.5",
"protein_id": "XP_005272115.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 446,
"cds_start": 244,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272058.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Trp83Arg",
"transcript": "XM_047417608.1",
"protein_id": "XP_047273564.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 434,
"cds_start": 247,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417608.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.202T>C",
"hgvs_p": "p.Trp68Arg",
"transcript": "XM_047417610.1",
"protein_id": "XP_047273566.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 419,
"cds_start": 202,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417610.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Trp52Arg",
"transcript": "XM_011543594.3",
"protein_id": "XP_011541896.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 417,
"cds_start": 154,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543594.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Trp52Arg",
"transcript": "XM_047417611.1",
"protein_id": "XP_047273567.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 417,
"cds_start": 154,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417611.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Trp52Arg",
"transcript": "XM_047417612.1",
"protein_id": "XP_047273568.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 416,
"cds_start": 154,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417612.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.183T>C",
"hgvs_p": "p.Tyr61Tyr",
"transcript": "NM_001349544.2",
"protein_id": "NP_001336473.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 441,
"cds_start": 183,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349544.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.183T>C",
"hgvs_p": "p.Tyr61Tyr",
"transcript": "NM_001146321.3",
"protein_id": "NP_001139793.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 440,
"cds_start": 183,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146321.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.183T>C",
"hgvs_p": "p.Tyr61Tyr",
"transcript": "ENST00000542322.5",
"protein_id": "ENSP00000441876.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 440,
"cds_start": 183,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542322.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.183T>C",
"hgvs_p": "p.Tyr61Tyr",
"transcript": "XM_047417609.1",
"protein_id": "XP_047273565.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 427,
"cds_start": 183,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417609.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.105T>C",
"hgvs_p": "p.Tyr35Tyr",
"transcript": "XM_011543591.3",
"protein_id": "XP_011541893.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 415,
"cds_start": 105,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543591.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.105T>C",
"hgvs_p": "p.Tyr35Tyr",
"transcript": "XM_017009781.2",
"protein_id": "XP_016865270.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 415,
"cds_start": 105,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009781.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.105T>C",
"hgvs_p": "p.Tyr35Tyr",
"transcript": "XM_047417613.1",
"protein_id": "XP_047273569.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 415,
"cds_start": 105,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417613.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.105T>C",
"hgvs_p": "p.Tyr35Tyr",
"transcript": "XM_047417614.1",
"protein_id": "XP_047273570.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 415,
"cds_start": 105,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417614.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.105T>C",
"hgvs_p": "p.Tyr35Tyr",
"transcript": "XM_011543592.4",
"protein_id": "XP_011541894.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 414,
"cds_start": 105,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543592.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "c.-126T>C",
"hgvs_p": null,
"transcript": "ENST00000502348.5",
"protein_id": "ENSP00000427596.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"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": "ENST00000502348.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.393T>C",
"hgvs_p": null,
"transcript": "ENST00000505441.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000505441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.496T>C",
"hgvs_p": null,
"transcript": "ENST00000505720.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000505720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.194T>C",
"hgvs_p": null,
"transcript": "ENST00000509882.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000509882.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.531T>C",
"hgvs_p": null,
"transcript": "ENST00000513913.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000513913.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.202T>C",
"hgvs_p": null,
"transcript": "ENST00000513978.5",
"protein_id": "ENSP00000421494.1",
"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": "ENST00000513978.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.202T>C",
"hgvs_p": null,
"transcript": "ENST00000514099.5",
"protein_id": "ENSP00000423236.1",
"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": "ENST00000514099.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.452T>C",
"hgvs_p": null,
"transcript": "ENST00000514932.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000514932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.400T>C",
"hgvs_p": null,
"transcript": "NR_146195.2",
"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_146195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.400T>C",
"hgvs_p": null,
"transcript": "NR_146196.2",
"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_146196.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"hgvs_c": "n.400T>C",
"hgvs_p": null,
"transcript": "NR_146197.2",
"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_146197.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250602",
"gene_hgnc_id": null,
"hgvs_c": "n.191+1897A>G",
"hgvs_p": null,
"transcript": "ENST00000512779.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000512779.1"
},
{
"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": "ENSG00000250602",
"gene_hgnc_id": null,
"hgvs_c": "n.265+1897A>G",
"hgvs_p": null,
"transcript": "ENST00000515808.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000515808.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250602",
"gene_hgnc_id": null,
"hgvs_c": "n.895+1897A>G",
"hgvs_p": null,
"transcript": "ENST00000648070.1",
"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": "ENST00000648070.1"
}
],
"gene_symbol": "GRAMD2B",
"gene_hgnc_id": 24911,
"dbsnp": "rs769424193",
"frequency_reference_population": 0.000010267249,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000102672,
"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": 0.06277468800544739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.0020000000949949026,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.0667,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.995,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000449218586110481,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349543.2",
"gene_symbol": "GRAMD2B",
"hgnc_id": 24911,
"effects": [
"start_lost",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000512779.1",
"gene_symbol": "ENSG00000250602",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.191+1897A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}