← 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: 2-28783942-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28783942&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 28783942,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002709.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_002709.3",
"protein_id": "NP_002700.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395366.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002709.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000395366.3",
"protein_id": "ENSP00000378769.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002709.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395366.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000296122.10",
"protein_id": "ENSP00000296122.6",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296122.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Trp",
"transcript": "ENST00000703174.1",
"protein_id": "ENSP00000515220.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 368,
"cds_start": 679,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703174.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Trp",
"transcript": "ENST00000941106.1",
"protein_id": "ENSP00000611165.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 368,
"cds_start": 679,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941106.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Trp",
"transcript": "ENST00000868413.1",
"protein_id": "ENSP00000538472.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 336,
"cds_start": 583,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868413.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Trp",
"transcript": "ENST00000941109.1",
"protein_id": "ENSP00000611168.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 336,
"cds_start": 583,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941109.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_206876.2",
"protein_id": "NP_996759.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206876.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000420282.6",
"protein_id": "ENSP00000398839.2",
"transcript_support_level": 4,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420282.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000441461.6",
"protein_id": "ENSP00000414918.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441461.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000703173.1",
"protein_id": "ENSP00000515219.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 327,
"cds_start": 556,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703173.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"transcript": "ENST00000941105.1",
"protein_id": "ENSP00000611164.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 326,
"cds_start": 553,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941105.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185Trp",
"transcript": "ENST00000941108.1",
"protein_id": "ENSP00000611167.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 326,
"cds_start": 553,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941108.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "ENST00000868411.1",
"protein_id": "ENSP00000538470.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 323,
"cds_start": 544,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868411.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "ENST00000703176.1",
"protein_id": "ENSP00000515221.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 316,
"cds_start": 523,
"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": "ENST00000703176.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000941113.1",
"protein_id": "ENSP00000611172.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 316,
"cds_start": 556,
"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": "ENST00000941113.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "ENST00000941110.1",
"protein_id": "ENSP00000611169.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 305,
"cds_start": 490,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941110.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158Trp",
"transcript": "ENST00000455580.6",
"protein_id": "ENSP00000390715.2",
"transcript_support_level": 3,
"aa_start": 158,
"aa_end": null,
"aa_length": 299,
"cds_start": 472,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455580.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158Trp",
"transcript": "ENST00000703172.1",
"protein_id": "ENSP00000515218.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 299,
"cds_start": 472,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703172.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158Trp",
"transcript": "ENST00000868412.1",
"protein_id": "ENSP00000538471.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 299,
"cds_start": 472,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868412.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158Trp",
"transcript": "ENST00000868414.1",
"protein_id": "ENSP00000538473.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 299,
"cds_start": 472,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868414.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000941104.1",
"protein_id": "ENSP00000611163.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 296,
"cds_start": 556,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941104.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000868410.1",
"protein_id": "ENSP00000538469.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 282,
"cds_start": 556,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868410.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000941107.1",
"protein_id": "ENSP00000611166.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 282,
"cds_start": 556,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941107.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "ENST00000941111.1",
"protein_id": "ENSP00000611170.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 250,
"cds_start": 325,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941111.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Trp",
"transcript": "ENST00000941112.1",
"protein_id": "ENSP00000611171.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 215,
"cds_start": 220,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941112.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Trp",
"transcript": "ENST00000941114.1",
"protein_id": "ENSP00000611173.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 206,
"cds_start": 193,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941114.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.520+2100C>T",
"hgvs_p": null,
"transcript": "ENST00000868409.1",
"protein_id": "ENSP00000538468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868409.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "c.520+2100C>T",
"hgvs_p": null,
"transcript": "ENST00000930106.1",
"protein_id": "ENSP00000600165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930106.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.*516C>T",
"hgvs_p": null,
"transcript": "ENST00000427786.2",
"protein_id": "ENSP00000394589.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYA",
"gene_hgnc_id": 30613,
"hgvs_c": "n.383C>T",
"hgvs_p": null,
"transcript": "ENST00000462832.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462832.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.*603C>T",
"hgvs_p": null,
"transcript": "ENST00000703171.1",
"protein_id": "ENSP00000515217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703171.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.*516C>T",
"hgvs_p": null,
"transcript": "ENST00000703177.1",
"protein_id": "ENSP00000515222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703177.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.439C>T",
"hgvs_p": null,
"transcript": "ENST00000703183.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000703183.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.*516C>T",
"hgvs_p": null,
"transcript": "ENST00000427786.2",
"protein_id": "ENSP00000394589.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.*603C>T",
"hgvs_p": null,
"transcript": "ENST00000703171.1",
"protein_id": "ENSP00000515217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703171.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"hgvs_c": "n.*516C>T",
"hgvs_p": null,
"transcript": "ENST00000703177.1",
"protein_id": "ENSP00000515222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703177.1"
}
],
"gene_symbol": "PPP1CB",
"gene_hgnc_id": 9282,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8292332887649536,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.336,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.821,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002709.3",
"gene_symbol": "PPP1CB",
"hgnc_id": 9282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000462832.5",
"gene_symbol": "SPDYA",
"hgnc_id": 30613,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.383C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}