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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: 1-46066985-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46066985&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46066985,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001328654.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "NM_003629.4",
"protein_id": "NP_003620.3",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 461,
"cds_start": 421,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262741.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003629.4"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000262741.10",
"protein_id": "ENSP00000262741.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 461,
"cds_start": 421,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003629.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262741.10"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3R3URF-PIK3R3",
"gene_hgnc_id": 54999,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.His187Asp",
"transcript": "ENST00000540385.2",
"protein_id": "ENSP00000439913.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 507,
"cds_start": 559,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540385.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000372006.5",
"protein_id": "ENSP00000361075.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 461,
"cds_start": 421,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372006.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000420542.5",
"protein_id": "ENSP00000412546.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 461,
"cds_start": 421,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420542.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000423209.5",
"protein_id": "ENSP00000391431.1",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 402,
"cds_start": 421,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423209.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.-48C>G",
"hgvs_p": null,
"transcript": "NM_001328654.2",
"protein_id": "NP_001315583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"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": "NM_001328654.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3R3URF-PIK3R3",
"gene_hgnc_id": 54999,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.His187Asp",
"transcript": "NM_001303427.2",
"protein_id": "NP_001290356.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 507,
"cds_start": 559,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303427.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.His158Asp",
"transcript": "NM_001303428.1",
"protein_id": "NP_001290357.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 478,
"cds_start": 472,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303428.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.442C>G",
"hgvs_p": "p.His148Asp",
"transcript": "ENST00000955779.1",
"protein_id": "ENSP00000625838.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 442,
"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": "ENST00000955779.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "NM_001114172.1",
"protein_id": "NP_001107644.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 461,
"cds_start": 421,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114172.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000862328.1",
"protein_id": "ENSP00000532387.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 461,
"cds_start": 421,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862328.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000955780.1",
"protein_id": "ENSP00000625839.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 459,
"cds_start": 421,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955780.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.322C>G",
"hgvs_p": "p.His108Asp",
"transcript": "ENST00000955778.1",
"protein_id": "ENSP00000625837.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 428,
"cds_start": 322,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955778.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.His97Asp",
"transcript": "NM_001328648.1",
"protein_id": "NP_001315577.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 417,
"cds_start": 289,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328648.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.His97Asp",
"transcript": "NM_001328649.1",
"protein_id": "NP_001315578.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 417,
"cds_start": 289,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328649.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.His97Asp",
"transcript": "NM_001328650.1",
"protein_id": "NP_001315579.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 417,
"cds_start": 289,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328650.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.His97Asp",
"transcript": "NM_001328651.1",
"protein_id": "NP_001315580.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 417,
"cds_start": 289,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328651.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "NM_001328652.2",
"protein_id": "NP_001315581.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 404,
"cds_start": 421,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328652.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "NM_001303429.2",
"protein_id": "NP_001290358.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 402,
"cds_start": 421,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303429.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.178C>G",
"hgvs_p": "p.His60Asp",
"transcript": "NM_001328653.2",
"protein_id": "NP_001315582.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 380,
"cds_start": 178,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328653.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000955777.1",
"protein_id": "ENSP00000625836.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 379,
"cds_start": 421,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955777.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.421C>G",
"hgvs_p": "p.His141Asp",
"transcript": "ENST00000425892.2",
"protein_id": "ENSP00000416647.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 205,
"cds_start": 421,
"cds_end": null,
"cds_length": 619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425892.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.-48C>G",
"hgvs_p": null,
"transcript": "NM_001328654.2",
"protein_id": "NP_001315583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"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": "NM_001328654.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "c.314+10530C>G",
"hgvs_p": null,
"transcript": "ENST00000955781.1",
"protein_id": "ENSP00000625840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "n.443C>G",
"hgvs_p": null,
"transcript": "ENST00000493202.1",
"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": "ENST00000493202.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"hgvs_c": "n.992-806C>G",
"hgvs_p": null,
"transcript": "NR_137329.2",
"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_137329.2"
}
],
"gene_symbol": "PIK3R3",
"gene_hgnc_id": 8981,
"dbsnp": "rs368006440",
"frequency_reference_population": 0.000006574449,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657445,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3828423023223877,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.5988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.006,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001328654.2",
"gene_symbol": "PIK3R3",
"hgnc_id": 8981,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-48C>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303427.2",
"gene_symbol": "P3R3URF-PIK3R3",
"hgnc_id": 54999,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.559C>G",
"hgvs_p": "p.His187Asp"
}
],
"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
}