← 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: 1-109280794-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109280794&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109280794,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363309.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "NM_001032291.3",
"protein_id": "NP_001027462.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369909.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032291.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000369909.7",
"protein_id": "ENSP00000358925.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001032291.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369909.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000369907.7",
"protein_id": "ENSP00000358923.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369907.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "ENST00000369904.7",
"protein_id": "ENSP00000358920.3",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369904.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "n.1169G>A",
"hgvs_p": null,
"transcript": "ENST00000492431.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000492431.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "NM_001363309.2",
"protein_id": "NP_001350238.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363309.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "NM_001394005.1",
"protein_id": "NP_001380934.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394005.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000409138.6",
"protein_id": "ENSP00000474667.1",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409138.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000902367.1",
"protein_id": "ENSP00000572426.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902367.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000902371.1",
"protein_id": "ENSP00000572430.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902371.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000902373.1",
"protein_id": "ENSP00000572432.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902373.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000902374.1",
"protein_id": "ENSP00000572433.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902374.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000916111.1",
"protein_id": "ENSP00000586170.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916111.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000916119.1",
"protein_id": "ENSP00000586178.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916119.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "ENST00000954359.1",
"protein_id": "ENSP00000624418.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954359.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "NM_001394002.1",
"protein_id": "NP_001380931.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394002.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "NM_032636.8",
"protein_id": "NP_116025.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032636.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000369903.6",
"protein_id": "ENSP00000358919.2",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369903.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000409267.5",
"protein_id": "ENSP00000386323.1",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409267.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902365.1",
"protein_id": "ENSP00000572424.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902365.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902366.1",
"protein_id": "ENSP00000572425.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902366.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902368.1",
"protein_id": "ENSP00000572427.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902368.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902370.1",
"protein_id": "ENSP00000572429.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902370.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902372.1",
"protein_id": "ENSP00000572431.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902372.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902375.1",
"protein_id": "ENSP00000572434.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902375.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000902378.1",
"protein_id": "ENSP00000572437.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902378.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000916108.1",
"protein_id": "ENSP00000586167.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916108.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000954357.1",
"protein_id": "ENSP00000624416.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954357.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000954358.1",
"protein_id": "ENSP00000624417.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954358.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000916112.1",
"protein_id": "ENSP00000586171.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 332,
"cds_start": 884,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916112.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "ENST00000916115.1",
"protein_id": "ENSP00000586174.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 332,
"cds_start": 884,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916115.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000902369.1",
"protein_id": "ENSP00000572428.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 330,
"cds_start": 878,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902369.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000902377.1",
"protein_id": "ENSP00000572436.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 330,
"cds_start": 878,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902377.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000916110.1",
"protein_id": "ENSP00000586169.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 330,
"cds_start": 878,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916110.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000916122.1",
"protein_id": "ENSP00000586181.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 330,
"cds_start": 878,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916122.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000954361.1",
"protein_id": "ENSP00000624420.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 330,
"cds_start": 878,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954361.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001350237.2",
"protein_id": "NP_001337166.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350237.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001350238.2",
"protein_id": "NP_001337167.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350238.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001350239.2",
"protein_id": "NP_001337168.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350239.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001350240.2",
"protein_id": "NP_001337169.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350240.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001350241.2",
"protein_id": "NP_001337170.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350241.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "NM_001350242.2",
"protein_id": "NP_001337171.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350242.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279Gln",
"transcript": "ENST00000916118.1",
"protein_id": "ENSP00000586177.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 316,
"cds_start": 836,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916118.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Gly234Arg",
"transcript": "ENST00000916117.1",
"protein_id": "ENSP00000586176.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 273,
"cds_start": 700,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916117.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000902376.1",
"protein_id": "ENSP00000572435.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 152,
"cds_start": 344,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902376.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000916114.1",
"protein_id": "ENSP00000586173.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 152,
"cds_start": 344,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916114.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000916121.1",
"protein_id": "ENSP00000586180.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 152,
"cds_start": 344,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916121.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"transcript": "ENST00000954360.1",
"protein_id": "ENSP00000624419.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 152,
"cds_start": 344,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954360.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "ENST00000916109.1",
"protein_id": "ENSP00000586168.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 128,
"cds_start": 272,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916109.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "ENST00000916113.1",
"protein_id": "ENSP00000586172.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 128,
"cds_start": 272,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916113.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "ENST00000916120.1",
"protein_id": "ENSP00000586179.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 128,
"cds_start": 272,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916120.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "ENST00000916123.1",
"protein_id": "ENSP00000586182.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 128,
"cds_start": 272,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916123.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Arg91Gln",
"transcript": "ENST00000954362.1",
"protein_id": "ENSP00000624421.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 128,
"cds_start": 272,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954362.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017002560.3",
"protein_id": "XP_016858049.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002560.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017002562.2",
"protein_id": "XP_016858051.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002562.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017002563.2",
"protein_id": "XP_016858052.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002563.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017002564.2",
"protein_id": "XP_016858053.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002564.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017002566.2",
"protein_id": "XP_016858055.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002566.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_017002567.2",
"protein_id": "XP_016858056.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002567.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln",
"transcript": "XM_047432251.1",
"protein_id": "XP_047288207.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 363,
"cds_start": 977,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432251.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_005271283.4",
"protein_id": "XP_005271340.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271283.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_017002569.2",
"protein_id": "XP_016858058.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002569.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_017002570.2",
"protein_id": "XP_016858059.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002570.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_047432255.1",
"protein_id": "XP_047288211.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432255.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_047432264.1",
"protein_id": "XP_047288220.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432264.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "XM_047432272.1",
"protein_id": "XP_047288228.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 333,
"cds_start": 887,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432272.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "XM_047432274.1",
"protein_id": "XP_047288230.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432274.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Gln",
"transcript": "XM_047432275.1",
"protein_id": "XP_047288231.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 317,
"cds_start": 839,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432275.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "NM_001005290.4",
"protein_id": "NP_001005290.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005290.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "NM_001394003.1",
"protein_id": "NP_001380932.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394003.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "NM_001394004.1",
"protein_id": "NP_001380933.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394004.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "ENST00000916116.1",
"protein_id": "ENSP00000586175.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 268,
"cds_start": 786,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916116.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "XM_047432277.1",
"protein_id": "XP_047288233.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432277.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "XM_047432284.1",
"protein_id": "XP_047288240.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432284.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Ala262Ala",
"transcript": "XM_047432294.1",
"protein_id": "XP_047288250.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 310,
"cds_start": 786,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*192G>A",
"hgvs_p": null,
"transcript": "ENST00000429031.5",
"protein_id": "ENSP00000387791.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000474126.2",
"protein_id": "ENSP00000474682.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474126.2"
}
],
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"dbsnp": "rs891555317",
"frequency_reference_population": 0.000010755423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.000009101,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08563843369483948,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.0926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.558,
"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": "NM_001363309.2",
"gene_symbol": "PSRC1",
"hgnc_id": 24472,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Arg326Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}