← 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: 2-28783934-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28783934&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 28783934,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002709.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "NM_002709.3",
"protein_id": "NP_002700.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000395366.3",
"protein_id": "ENSP00000378769.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000296122.10",
"protein_id": "ENSP00000296122.6",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.671A>C",
"hgvs_p": "p.Glu224Ala",
"transcript": "ENST00000703174.1",
"protein_id": "ENSP00000515220.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 368,
"cds_start": 671,
"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": "E",
"aa_alt": "A",
"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.671A>C",
"hgvs_p": "p.Glu224Ala",
"transcript": "ENST00000941106.1",
"protein_id": "ENSP00000611165.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 368,
"cds_start": 671,
"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": "E",
"aa_alt": "A",
"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.575A>C",
"hgvs_p": "p.Glu192Ala",
"transcript": "ENST00000868413.1",
"protein_id": "ENSP00000538472.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 336,
"cds_start": 575,
"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": "E",
"aa_alt": "A",
"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.575A>C",
"hgvs_p": "p.Glu192Ala",
"transcript": "ENST00000941109.1",
"protein_id": "ENSP00000611168.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 336,
"cds_start": 575,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "NM_206876.2",
"protein_id": "NP_996759.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000420282.6",
"protein_id": "ENSP00000398839.2",
"transcript_support_level": 4,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000441461.6",
"protein_id": "ENSP00000414918.2",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000703173.1",
"protein_id": "ENSP00000515219.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 327,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.545A>C",
"hgvs_p": "p.Glu182Ala",
"transcript": "ENST00000941105.1",
"protein_id": "ENSP00000611164.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 326,
"cds_start": 545,
"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": "E",
"aa_alt": "A",
"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.545A>C",
"hgvs_p": "p.Glu182Ala",
"transcript": "ENST00000941108.1",
"protein_id": "ENSP00000611167.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 326,
"cds_start": 545,
"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": "E",
"aa_alt": "A",
"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.536A>C",
"hgvs_p": "p.Glu179Ala",
"transcript": "ENST00000868411.1",
"protein_id": "ENSP00000538470.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 323,
"cds_start": 536,
"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": "E",
"aa_alt": "A",
"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.515A>C",
"hgvs_p": "p.Glu172Ala",
"transcript": "ENST00000703176.1",
"protein_id": "ENSP00000515221.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 316,
"cds_start": 515,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000941113.1",
"protein_id": "ENSP00000611172.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 316,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.482A>C",
"hgvs_p": "p.Glu161Ala",
"transcript": "ENST00000941110.1",
"protein_id": "ENSP00000611169.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 305,
"cds_start": 482,
"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": "E",
"aa_alt": "A",
"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.464A>C",
"hgvs_p": "p.Glu155Ala",
"transcript": "ENST00000455580.6",
"protein_id": "ENSP00000390715.2",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 299,
"cds_start": 464,
"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": "E",
"aa_alt": "A",
"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.464A>C",
"hgvs_p": "p.Glu155Ala",
"transcript": "ENST00000703172.1",
"protein_id": "ENSP00000515218.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 299,
"cds_start": 464,
"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": "E",
"aa_alt": "A",
"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.464A>C",
"hgvs_p": "p.Glu155Ala",
"transcript": "ENST00000868412.1",
"protein_id": "ENSP00000538471.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 299,
"cds_start": 464,
"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": "E",
"aa_alt": "A",
"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.464A>C",
"hgvs_p": "p.Glu155Ala",
"transcript": "ENST00000868414.1",
"protein_id": "ENSP00000538473.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 299,
"cds_start": 464,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000941104.1",
"protein_id": "ENSP00000611163.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 296,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000868410.1",
"protein_id": "ENSP00000538469.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 282,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000941107.1",
"protein_id": "ENSP00000611166.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 282,
"cds_start": 548,
"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": "E",
"aa_alt": "A",
"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.317A>C",
"hgvs_p": "p.Glu106Ala",
"transcript": "ENST00000941111.1",
"protein_id": "ENSP00000611170.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 250,
"cds_start": 317,
"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": "E",
"aa_alt": "A",
"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.212A>C",
"hgvs_p": "p.Glu71Ala",
"transcript": "ENST00000941112.1",
"protein_id": "ENSP00000611171.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 215,
"cds_start": 212,
"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": "E",
"aa_alt": "A",
"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.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "ENST00000941114.1",
"protein_id": "ENSP00000611173.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 206,
"cds_start": 185,
"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+2092A>C",
"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+2092A>C",
"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.*508A>C",
"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.375A>C",
"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.*595A>C",
"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.*508A>C",
"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.431A>C",
"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.*508A>C",
"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.*595A>C",
"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.*508A>C",
"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": "rs886037954",
"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": 0.611345112323761,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
"alphamissense_score": 0.8069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.294,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS2,PP2,PM2_Supporting,PS4_Supporting,BP4",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 1,
"pathogenic_score": 7,
"criteria": [
"PS2",
"PP2",
"PM2_Supporting",
"PS4_Supporting",
"BP4"
],
"verdict": "Pathogenic",
"transcript": "NM_002709.3",
"gene_symbol": "PPP1CB",
"hgnc_id": 9282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.548A>C",
"hgvs_p": "p.Glu183Ala"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000462832.5",
"gene_symbol": "SPDYA",
"hgnc_id": 30613,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.375A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Noonan syndrome-like disorder with loose anagen hair,Noonan syndrome-like disorder with loose anagen hair 2,RASopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Noonan syndrome-like disorder with loose anagen hair 2|not provided|Cardiovascular phenotype|Noonan syndrome-like disorder with loose anagen hair|RASopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}