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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: 17-8881806-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8881806&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8881806,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014308.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Trp",
"transcript": "NM_001142633.3",
"protein_id": "NP_001136105.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 880,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447110.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142633.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Trp",
"transcript": "ENST00000447110.6",
"protein_id": "ENSP00000392812.1",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 880,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142633.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447110.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Trp",
"transcript": "ENST00000581552.5",
"protein_id": "ENSP00000462433.1",
"transcript_support_level": 1,
"aa_start": 761,
"aa_end": null,
"aa_length": 880,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581552.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "ENST00000623421.3",
"protein_id": "ENSP00000485280.1",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623421.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.*1470C>T",
"hgvs_p": null,
"transcript": "ENST00000269300.8",
"protein_id": "ENSP00000269300.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000269300.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.*1470C>T",
"hgvs_p": null,
"transcript": "ENST00000269300.8",
"protein_id": "ENSP00000269300.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000269300.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Trp",
"transcript": "NM_014308.4",
"protein_id": "NP_055123.2",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 880,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014308.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760Trp",
"transcript": "NM_001388396.1",
"protein_id": "NP_001375325.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 879,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388396.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2278C>T",
"hgvs_p": "p.Arg760Trp",
"transcript": "ENST00000584803.1",
"protein_id": "ENSP00000462680.1",
"transcript_support_level": 5,
"aa_start": 760,
"aa_end": null,
"aa_length": 879,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584803.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Trp",
"transcript": "ENST00000935159.1",
"protein_id": "ENSP00000605218.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 638,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935159.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001251851.2",
"protein_id": "NP_001238780.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251851.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001251852.2",
"protein_id": "NP_001238781.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251852.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001251853.2",
"protein_id": "NP_001238782.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251853.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001251855.2",
"protein_id": "NP_001238784.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251855.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001388397.1",
"protein_id": "NP_001375326.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388397.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001388398.1",
"protein_id": "NP_001375327.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388398.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "NM_001388399.1",
"protein_id": "NP_001375328.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388399.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "ENST00000611902.4",
"protein_id": "ENSP00000477795.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611902.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Trp",
"transcript": "ENST00000616147.4",
"protein_id": "ENSP00000484211.1",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 494,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616147.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Trp",
"transcript": "NM_001388400.1",
"protein_id": "NP_001375329.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 493,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388400.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"transcript": "ENST00000585260.5",
"protein_id": "ENSP00000462824.1",
"transcript_support_level": 3,
"aa_start": 22,
"aa_end": null,
"aa_length": 93,
"cds_start": 64,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585260.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Trp",
"transcript": "XM_047435709.1",
"protein_id": "XP_047291665.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 880,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.551C>T",
"hgvs_p": null,
"transcript": "ENST00000577214.1",
"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": "retained_intron",
"feature": "ENST00000577214.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.2403C>T",
"hgvs_p": null,
"transcript": "ENST00000578515.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578515.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "ENST00000578743.5",
"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": "ENST00000578743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.703C>T",
"hgvs_p": null,
"transcript": "ENST00000583810.5",
"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": "retained_intron",
"feature": "ENST00000583810.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903919",
"gene_hgnc_id": null,
"hgvs_c": "n.924-2760G>A",
"hgvs_p": null,
"transcript": "XR_007065610.1",
"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": "XR_007065610.1"
}
],
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"dbsnp": "rs201299435",
"frequency_reference_population": 0.000027882837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000266799,
"gnomad_genomes_af": 0.0000394425,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3139469623565674,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.432,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.459,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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_014308.4",
"gene_symbol": "PIK3R5",
"hgnc_id": 30035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065610.1",
"gene_symbol": "LOC124903919",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.924-2760G>A",
"hgvs_p": null
}
],
"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
}