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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: 12-79690133-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=79690133&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 79690133,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002583.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "NM_002583.4",
"protein_id": "NP_002574.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328827.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002583.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000328827.9",
"protein_id": "ENSP00000328088.4",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002583.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328827.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "NM_001354732.2",
"protein_id": "NP_001341661.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354732.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000903360.1",
"protein_id": "ENSP00000573419.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903360.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000912080.1",
"protein_id": "ENSP00000582139.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912080.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000912081.1",
"protein_id": "ENSP00000582140.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912081.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000970643.1",
"protein_id": "ENSP00000640702.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970643.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000903363.1",
"protein_id": "ENSP00000573422.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 305,
"cds_start": 112,
"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": "ENST00000903363.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000903361.1",
"protein_id": "ENSP00000573420.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 296,
"cds_start": 112,
"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": "ENST00000903361.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000903362.1",
"protein_id": "ENSP00000573421.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 296,
"cds_start": 112,
"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": "ENST00000903362.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "NM_001354733.2",
"protein_id": "NP_001341662.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 248,
"cds_start": 112,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354733.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000548426.1",
"protein_id": "ENSP00000447454.1",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 74,
"cds_start": 112,
"cds_end": null,
"cds_length": 227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548426.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "ENST00000552637.1",
"protein_id": "ENSP00000449928.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 62,
"cds_start": 112,
"cds_end": null,
"cds_length": 191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552637.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "XM_047428916.1",
"protein_id": "XP_047284872.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 340,
"cds_start": 112,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428916.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "XM_047428917.1",
"protein_id": "XP_047284873.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 248,
"cds_start": 112,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428917.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "XM_047428918.1",
"protein_id": "XP_047284874.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 248,
"cds_start": 112,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428918.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "XM_017019378.2",
"protein_id": "XP_016874867.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 216,
"cds_start": 112,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019378.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "XM_047428919.1",
"protein_id": "XP_047284875.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 216,
"cds_start": 112,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428919.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser",
"transcript": "XM_017019379.2",
"protein_id": "XP_016874868.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 173,
"cds_start": 112,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019379.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12A-AS2",
"gene_hgnc_id": 55456,
"hgvs_c": "n.102C>T",
"hgvs_p": null,
"transcript": "NR_187531.1",
"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": "NR_187531.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "n.352G>A",
"hgvs_p": null,
"transcript": "XR_944560.3",
"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": "XR_944560.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "n.352G>A",
"hgvs_p": null,
"transcript": "XR_944561.3",
"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": "XR_944561.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "c.-54G>A",
"hgvs_p": null,
"transcript": "ENST00000551712.1",
"protein_id": "ENSP00000448317.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "n.-72G>A",
"hgvs_p": null,
"transcript": "ENST00000547016.1",
"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": "ENST00000547016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "n.-103G>A",
"hgvs_p": null,
"transcript": "ENST00000547571.1",
"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": "ENST00000547571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"hgvs_c": "n.-76G>A",
"hgvs_p": null,
"transcript": "ENST00000550006.1",
"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": "ENST00000550006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12A-AS2",
"gene_hgnc_id": 55456,
"hgvs_c": "n.-11C>T",
"hgvs_p": null,
"transcript": "ENST00000551995.1",
"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": "ENST00000551995.1"
}
],
"gene_symbol": "PAWR",
"gene_hgnc_id": 8614,
"dbsnp": "rs960054486",
"frequency_reference_population": 0.0000051329507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000513295,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.100504070520401,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.1031,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.437,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002583.4",
"gene_symbol": "PAWR",
"hgnc_id": 8614,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_187531.1",
"gene_symbol": "PPP1R12A-AS2",
"hgnc_id": 55456,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.102C>T",
"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
}