← 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: 16-68329105-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68329105&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68329105,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000441236.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_019023.5",
"protein_id": "NP_061896.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": "ENST00000441236.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000441236.3",
"protein_id": "ENSP00000409324.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": "NM_019023.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.850+4273G>C",
"hgvs_p": null,
"transcript": "ENST00000567542.5",
"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": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001351143.3",
"protein_id": "NP_001338072.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 713,
"cds_start": 322,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001351144.3",
"protein_id": "NP_001338073.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000692632.1",
"protein_id": "ENSP00000510669.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001290018.2",
"protein_id": "NP_001276947.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "NM_001378018.1",
"protein_id": "NP_001364947.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000339507.9",
"protein_id": "ENSP00000343103.5",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000687558.1",
"protein_id": "ENSP00000509003.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000692760.1",
"protein_id": "ENSP00000510748.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 692,
"cds_start": 322,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000565745.6",
"protein_id": "ENSP00000456190.2",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 655,
"cds_start": 322,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000691804.1",
"protein_id": "ENSP00000509455.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 646,
"cds_start": 322,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.172G>C",
"hgvs_p": "p.Glu58Gln",
"transcript": "NM_001184824.4",
"protein_id": "NP_001171753.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 642,
"cds_start": 172,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.172G>C",
"hgvs_p": "p.Glu58Gln",
"transcript": "ENST00000449359.7",
"protein_id": "ENSP00000414716.3",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 642,
"cds_start": 172,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000691961.1",
"protein_id": "ENSP00000510574.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 618,
"cds_start": 322,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "NM_001378021.1",
"protein_id": "NP_001364950.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 613,
"cds_start": 85,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "NM_001378022.1",
"protein_id": "NP_001364951.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 613,
"cds_start": 85,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "NM_001378023.1",
"protein_id": "NP_001364952.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 613,
"cds_start": 85,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.28G>C",
"hgvs_p": "p.Glu10Gln",
"transcript": "ENST00000691663.1",
"protein_id": "ENSP00000510167.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 594,
"cds_start": 28,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000692966.1",
"protein_id": "ENSP00000510428.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 567,
"cds_start": 322,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000569571.5",
"protein_id": "ENSP00000455538.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 222,
"cds_start": 322,
"cds_end": null,
"cds_length": 669,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "ENST00000569047.7",
"protein_id": "ENSP00000456848.3",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 168,
"cds_start": 322,
"cds_end": null,
"cds_length": 509,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_011523112.4",
"protein_id": "XP_011521414.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 714,
"cds_start": 322,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_011523113.4",
"protein_id": "XP_011521415.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 714,
"cds_start": 322,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_011523115.4",
"protein_id": "XP_011521417.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 714,
"cds_start": 322,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434217.1",
"protein_id": "XP_047290173.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 714,
"cds_start": 322,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_011523116.4",
"protein_id": "XP_011521418.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 713,
"cds_start": 322,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023292.3",
"protein_id": "XP_016878781.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 713,
"cds_start": 322,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434218.1",
"protein_id": "XP_047290174.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 713,
"cds_start": 322,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434219.1",
"protein_id": "XP_047290175.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 693,
"cds_start": 322,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023296.3",
"protein_id": "XP_016878785.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 687,
"cds_start": 322,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023297.3",
"protein_id": "XP_016878786.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 686,
"cds_start": 322,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434220.1",
"protein_id": "XP_047290176.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 686,
"cds_start": 322,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434221.1",
"protein_id": "XP_047290177.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 686,
"cds_start": 322,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434222.1",
"protein_id": "XP_047290178.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 686,
"cds_start": 322,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023298.3",
"protein_id": "XP_016878787.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 670,
"cds_start": 322,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434223.1",
"protein_id": "XP_047290179.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 669,
"cds_start": 322,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023299.3",
"protein_id": "XP_016878788.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 648,
"cds_start": 322,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434224.1",
"protein_id": "XP_047290180.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 648,
"cds_start": 322,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023300.3",
"protein_id": "XP_016878789.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 640,
"cds_start": 322,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023301.3",
"protein_id": "XP_016878790.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 639,
"cds_start": 322,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434228.1",
"protein_id": "XP_047290184.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 639,
"cds_start": 322,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434229.1",
"protein_id": "XP_047290185.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 639,
"cds_start": 322,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "XM_047434230.1",
"protein_id": "XP_047290186.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 635,
"cds_start": 85,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_017023304.3",
"protein_id": "XP_016878793.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 627,
"cds_start": 322,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434231.1",
"protein_id": "XP_047290187.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 567,
"cds_start": 322,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434232.1",
"protein_id": "XP_047290188.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 567,
"cds_start": 322,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.85G>C",
"hgvs_p": "p.Glu29Gln",
"transcript": "XM_047434233.1",
"protein_id": "XP_047290189.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 560,
"cds_start": 85,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434236.1",
"protein_id": "XP_047290192.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 523,
"cds_start": 322,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434237.1",
"protein_id": "XP_047290193.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 502,
"cds_start": 322,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln",
"transcript": "XM_047434238.1",
"protein_id": "XP_047290194.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 493,
"cds_start": 322,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.422G>C",
"hgvs_p": null,
"transcript": "ENST00000561806.5",
"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": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000562050.6",
"protein_id": "ENSP00000457381.2",
"transcript_support_level": 3,
"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": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.531G>C",
"hgvs_p": null,
"transcript": "ENST00000562381.7",
"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": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.257G>C",
"hgvs_p": null,
"transcript": "ENST00000563520.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.400G>C",
"hgvs_p": null,
"transcript": "ENST00000564441.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.441G>C",
"hgvs_p": null,
"transcript": "ENST00000565356.5",
"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": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.633G>C",
"hgvs_p": null,
"transcript": "ENST00000565761.1",
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.430G>C",
"hgvs_p": null,
"transcript": "ENST00000566341.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000568975.5",
"protein_id": "ENSP00000454776.1",
"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": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000675132.1",
"protein_id": "ENSP00000501903.1",
"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": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000685109.1",
"protein_id": "ENSP00000510738.1",
"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": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000685141.1",
"protein_id": "ENSP00000510413.1",
"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": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.85G>C",
"hgvs_p": null,
"transcript": "ENST00000686053.1",
"protein_id": "ENSP00000509773.1",
"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": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000686904.1",
"protein_id": "ENSP00000510630.1",
"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": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000687444.1",
"protein_id": "ENSP00000508888.1",
"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": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000687654.1",
"protein_id": "ENSP00000509677.1",
"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": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "ENST00000688470.1",
"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": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000689486.1",
"protein_id": "ENSP00000509523.1",
"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": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000689637.1",
"protein_id": "ENSP00000509781.1",
"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": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.211G>C",
"hgvs_p": null,
"transcript": "ENST00000690311.1",
"protein_id": "ENSP00000509264.1",
"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": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.630G>C",
"hgvs_p": null,
"transcript": "ENST00000690432.1",
"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": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000690932.1",
"protein_id": "ENSP00000509008.1",
"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": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.85G>C",
"hgvs_p": null,
"transcript": "ENST00000691833.1",
"protein_id": "ENSP00000510744.1",
"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": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.85G>C",
"hgvs_p": null,
"transcript": "ENST00000692283.1",
"protein_id": "ENSP00000508499.1",
"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": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000692621.1",
"protein_id": "ENSP00000509231.1",
"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": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.630G>C",
"hgvs_p": null,
"transcript": "ENST00000692867.1",
"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": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.322G>C",
"hgvs_p": null,
"transcript": "ENST00000693200.1",
"protein_id": "ENSP00000508937.1",
"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": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.*2301G>C",
"hgvs_p": null,
"transcript": "ENST00000693309.1",
"protein_id": "ENSP00000510806.1",
"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": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.630G>C",
"hgvs_p": null,
"transcript": "ENST00000693670.1",
"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": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "NR_147056.3",
"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": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "NR_147057.3",
"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": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "NR_147058.3",
"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": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "NR_165365.1",
"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": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "NR_165366.1",
"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": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "NR_165367.1",
"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": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.584G>C",
"hgvs_p": null,
"transcript": "NR_165368.1",
"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": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.449G>C",
"hgvs_p": null,
"transcript": "NR_165369.1",
"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": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.449G>C",
"hgvs_p": null,
"transcript": "NR_165370.1",
"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": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "NR_165372.1",
"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": 3813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.584G>C",
"hgvs_p": null,
"transcript": "NR_165373.1",
"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": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "XR_001751915.3",
"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": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "XR_002957814.2",
"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": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.633G>C",
"hgvs_p": null,
"transcript": "XR_007064885.1",
"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": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "XR_007064886.1",
"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": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.621G>C",
"hgvs_p": null,
"transcript": "XR_007064887.1",
"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": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.486G>C",
"hgvs_p": null,
"transcript": "XR_007064888.1",
"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": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.*2301G>C",
"hgvs_p": null,
"transcript": "ENST00000693309.1",
"protein_id": "ENSP00000510806.1",
"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": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "NM_001378020.1",
"protein_id": "NP_001364949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": -4,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.420+4273G>C",
"hgvs_p": null,
"transcript": "ENST00000563562.5",
"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": 487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.47-8354G>C",
"hgvs_p": null,
"transcript": "ENST00000564050.6",
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.282+4273G>C",
"hgvs_p": null,
"transcript": "ENST00000688969.1",
"protein_id": "ENSP00000509113.1",
"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": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "n.581+4273G>C",
"hgvs_p": null,
"transcript": "NR_165371.1",
"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": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "XM_011523121.4",
"protein_id": "XP_011521423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "XM_047434225.1",
"protein_id": "XP_047290181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "XM_047434226.1",
"protein_id": "XP_047290182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "XM_047434227.1",
"protein_id": "XP_047290183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "XM_047434234.1",
"protein_id": "XP_047290190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"hgvs_c": "c.184+4273G>C",
"hgvs_p": null,
"transcript": "XM_047434235.1",
"protein_id": "XP_047290191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRMT7",
"gene_hgnc_id": 25557,
"dbsnp": "rs1014959895",
"frequency_reference_population": 0.0000013693434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136934,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14596745371818542,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.625,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441236.3",
"gene_symbol": "PRMT7",
"hgnc_id": 25557,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.322G>C",
"hgvs_p": "p.Glu108Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}