← 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: 11-64925766-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64925766&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64925766,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006244.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "NM_006244.4",
"protein_id": "NP_006235.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000164133.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006244.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000164133.7",
"protein_id": "ENSP00000164133.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006244.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000164133.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872729.1",
"protein_id": "ENSP00000542788.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 509,
"cds_start": 32,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872729.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872717.1",
"protein_id": "ENSP00000542776.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872717.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872718.1",
"protein_id": "ENSP00000542777.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872718.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872719.1",
"protein_id": "ENSP00000542778.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872719.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872720.1",
"protein_id": "ENSP00000542779.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872720.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872721.1",
"protein_id": "ENSP00000542780.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872721.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872722.1",
"protein_id": "ENSP00000542781.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872722.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872723.1",
"protein_id": "ENSP00000542782.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872723.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872724.1",
"protein_id": "ENSP00000542783.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872724.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872726.1",
"protein_id": "ENSP00000542785.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872726.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872727.1",
"protein_id": "ENSP00000542786.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872727.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872728.1",
"protein_id": "ENSP00000542787.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872728.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000921545.1",
"protein_id": "ENSP00000591604.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921545.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000966954.1",
"protein_id": "ENSP00000637013.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966954.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000966955.1",
"protein_id": "ENSP00000637014.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966955.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000966956.1",
"protein_id": "ENSP00000637015.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966956.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000966958.1",
"protein_id": "ENSP00000637017.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966958.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872732.1",
"protein_id": "ENSP00000542791.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 477,
"cds_start": 32,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872732.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872725.1",
"protein_id": "ENSP00000542784.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 466,
"cds_start": 32,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872725.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872730.1",
"protein_id": "ENSP00000542789.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 466,
"cds_start": 32,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872730.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000966953.1",
"protein_id": "ENSP00000637012.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 466,
"cds_start": 32,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966953.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872731.1",
"protein_id": "ENSP00000542790.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 457,
"cds_start": 32,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872731.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000872733.1",
"protein_id": "ENSP00000542792.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 457,
"cds_start": 32,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872733.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000966957.1",
"protein_id": "ENSP00000637016.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 426,
"cds_start": 32,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966957.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "ENST00000526559.5",
"protein_id": "ENSP00000437088.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 192,
"cds_start": 32,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526559.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu",
"transcript": "XM_047427199.1",
"protein_id": "XP_047283155.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 497,
"cds_start": 32,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427199.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.-145-82C>T",
"hgvs_p": null,
"transcript": "ENST00000532850.1",
"protein_id": "ENSP00000436136.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532850.1"
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.27-82C>T",
"hgvs_p": null,
"transcript": "XM_011545132.3",
"protein_id": "XP_011543434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": null,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545132.3"
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"hgvs_c": "c.27-82C>T",
"hgvs_p": null,
"transcript": "XM_047427200.1",
"protein_id": "XP_047283156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": null,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427200.1"
}
],
"gene_symbol": "PPP2R5B",
"gene_hgnc_id": 9310,
"dbsnp": "rs763889029",
"frequency_reference_population": 0.0000062461395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000624614,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14072346687316895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.263,
"revel_prediction": "Benign",
"alphamissense_score": 0.1065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.44,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006244.4",
"gene_symbol": "PPP2R5B",
"hgnc_id": 9310,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Pro11Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}