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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: 11-67400763-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67400763&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67400763,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001008709.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "NM_002708.4",
"protein_id": "NP_002699.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 330,
"cds_start": 344,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376745.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002708.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000376745.9",
"protein_id": "ENSP00000365936.4",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 330,
"cds_start": 344,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002708.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376745.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.377C>G",
"hgvs_p": "p.Pro126Arg",
"transcript": "ENST00000312989.11",
"protein_id": "ENSP00000326031.7",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 341,
"cds_start": 377,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312989.11"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "n.425C>G",
"hgvs_p": null,
"transcript": "ENST00000526510.6",
"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": "ENST00000526510.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.377C>G",
"hgvs_p": "p.Pro126Arg",
"transcript": "NM_001008709.2",
"protein_id": "NP_001008709.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 341,
"cds_start": 377,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008709.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.359C>G",
"hgvs_p": "p.Pro120Arg",
"transcript": "ENST00000679175.1",
"protein_id": "ENSP00000503926.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 335,
"cds_start": 359,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679175.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000930816.1",
"protein_id": "ENSP00000600874.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 330,
"cds_start": 344,
"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": "ENST00000930816.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000930813.1",
"protein_id": "ENSP00000600872.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 329,
"cds_start": 344,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930813.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000896901.1",
"protein_id": "ENSP00000566960.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 311,
"cds_start": 344,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896901.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000896903.1",
"protein_id": "ENSP00000566962.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 311,
"cds_start": 344,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896903.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000527663.6",
"protein_id": "ENSP00000431146.2",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 295,
"cds_start": 344,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527663.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Pro80Arg",
"transcript": "ENST00000896899.1",
"protein_id": "ENSP00000566958.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 295,
"cds_start": 239,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896899.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Pro71Arg",
"transcript": "NM_206873.2",
"protein_id": "NP_996756.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 286,
"cds_start": 212,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206873.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Pro71Arg",
"transcript": "ENST00000358239.8",
"protein_id": "ENSP00000350974.4",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 286,
"cds_start": 212,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358239.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000896900.1",
"protein_id": "ENSP00000566959.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 285,
"cds_start": 344,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896900.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.344C>G",
"hgvs_p": "p.Pro115Arg",
"transcript": "ENST00000930814.1",
"protein_id": "ENSP00000600873.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 276,
"cds_start": 344,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930814.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Pro71Arg",
"transcript": "ENST00000896904.1",
"protein_id": "ENSP00000566963.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 267,
"cds_start": 212,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896904.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Pro71Arg",
"transcript": "ENST00000930818.1",
"protein_id": "ENSP00000600877.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 241,
"cds_start": 212,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930818.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.-13+1754G>C",
"hgvs_p": null,
"transcript": "ENST00000946007.1",
"protein_id": "ENSP00000616066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.187+305C>G",
"hgvs_p": null,
"transcript": "ENST00000896902.1",
"protein_id": "ENSP00000566961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "c.55+965C>G",
"hgvs_p": null,
"transcript": "ENST00000930817.1",
"protein_id": "ENSP00000600875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "n.525C>G",
"hgvs_p": null,
"transcript": "ENST00000529724.1",
"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": "retained_intron",
"feature": "ENST00000529724.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
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"hgvs_c": "n.425C>G",
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"transcript": "ENST00000532279.2",
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"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": "ENST00000532279.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
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"hgvs_c": "n.482C>G",
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"transcript": "ENST00000532446.5",
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"transcript_support_level": 5,
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"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": "ENST00000532446.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "n.475C>G",
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"transcript": "ENST00000537694.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000537694.2"
},
{
"aa_ref": null,
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"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": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "n.425C>G",
"hgvs_p": null,
"transcript": "ENST00000677322.1",
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"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": "retained_intron",
"feature": "ENST00000677322.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PPP1CA",
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"hgvs_c": "n.425C>G",
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"transcript": "ENST00000677343.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "n.*96C>G",
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"transcript": "ENST00000542876.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000542876.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"hgvs_c": "n.*92C>G",
"hgvs_p": null,
"transcript": "ENST00000546202.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000546202.5"
}
],
"gene_symbol": "PPP1CA",
"gene_hgnc_id": 9281,
"dbsnp": "rs1244315422",
"frequency_reference_population": 0.0000012391743,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84109e-7,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8771575093269348,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.595,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.973,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001008709.2",
"gene_symbol": "PPP1CA",
"hgnc_id": 9281,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.377C>G",
"hgvs_p": "p.Pro126Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000946007.1",
"gene_symbol": "TBC1D10C",
"hgnc_id": 24702,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-13+1754G>C",
"hgvs_p": null
}
],
"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
}