← 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: 4-142086248-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=142086248&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 142086248,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001101669.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001101669.3",
"protein_id": "NP_001095139.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "ENST00000262992.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "ENST00000262992.9",
"protein_id": "ENSP00000262992.4",
"transcript_support_level": 5,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "NM_001101669.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "ENST00000508116.5",
"protein_id": "ENSP00000423954.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2736,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "ENST00000513000.5",
"protein_id": "ENSP00000425487.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "ENST00000510812.5",
"protein_id": "ENSP00000427250.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 816,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2452,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001331040.1",
"protein_id": "NP_001317969.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2963,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385335.1",
"protein_id": "NP_001372264.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "ENST00000509777.5",
"protein_id": "ENSP00000422793.1",
"transcript_support_level": 5,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2410C>T",
"hgvs_p": "p.His804Tyr",
"transcript": "NM_001385339.1",
"protein_id": "NP_001372268.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 933,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 8913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2410C>T",
"hgvs_p": "p.His804Tyr",
"transcript": "NM_001385343.1",
"protein_id": "NP_001372272.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 933,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385334.1",
"protein_id": "NP_001372263.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2834,
"cdna_end": null,
"cdna_length": 8848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385336.1",
"protein_id": "NP_001372265.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385338.1",
"protein_id": "NP_001372267.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385341.1",
"protein_id": "NP_001372270.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 8783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385342.1",
"protein_id": "NP_001372271.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 8719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385344.1",
"protein_id": "NP_001372273.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 8947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_003866.3",
"protein_id": "NP_003857.2",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3062,
"cdna_end": null,
"cdna_length": 9076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385347.1",
"protein_id": "NP_001372276.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 920,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 8943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "NM_001385348.1",
"protein_id": "NP_001372277.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 920,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.His666Tyr",
"transcript": "NM_001385460.1",
"protein_id": "NP_001372389.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 809,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1978C>T",
"hgvs_p": "p.His660Tyr",
"transcript": "NM_001385351.1",
"protein_id": "NP_001372280.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 789,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 8533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385459.1",
"protein_id": "NP_001372388.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 753,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "ENST00000511838.6",
"protein_id": "ENSP00000426207.2",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 753,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.His619Tyr",
"transcript": "NM_001385455.1",
"protein_id": "NP_001372384.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 748,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 8410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.His619Tyr",
"transcript": "ENST00000850954.1",
"protein_id": "ENSP00000521038.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 748,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 8388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385382.1",
"protein_id": "NP_001372311.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 747,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 8407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385350.1",
"protein_id": "NP_001372279.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 739,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 8351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385379.1",
"protein_id": "NP_001372308.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 739,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 8545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385383.1",
"protein_id": "NP_001372312.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 739,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 8383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385457.1",
"protein_id": "NP_001372386.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 739,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385461.1",
"protein_id": "NP_001372390.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 739,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 8221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "ENST00000850955.1",
"protein_id": "ENSP00000521039.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 739,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385381.1",
"protein_id": "NP_001372310.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 735,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 8378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.His577Tyr",
"transcript": "NM_001385337.1",
"protein_id": "NP_001372266.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 720,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1828C>T",
"hgvs_p": "p.His610Tyr",
"transcript": "NM_001385380.1",
"protein_id": "NP_001372309.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 710,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 8441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.His577Tyr",
"transcript": "NM_001385340.1",
"protein_id": "NP_001372269.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 706,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 8129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1996C>T",
"hgvs_p": "p.His666Tyr",
"transcript": "ENST00000514525.1",
"protein_id": "ENSP00000421065.1",
"transcript_support_level": 2,
"aa_start": 666,
"aa_end": null,
"aa_length": 685,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.His551Tyr",
"transcript": "NM_001385450.1",
"protein_id": "NP_001372379.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 680,
"cds_start": 1651,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 8206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.His547Tyr",
"transcript": "NM_001385452.1",
"protein_id": "NP_001372381.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 676,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 8457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.His542Tyr",
"transcript": "NM_001385357.1",
"protein_id": "NP_001372286.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 671,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 8179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.His542Tyr",
"transcript": "NM_001385458.1",
"protein_id": "NP_001372387.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 671,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 7838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.His542Tyr",
"transcript": "NM_001385362.1",
"protein_id": "NP_001372291.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 667,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 8339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.His392Tyr",
"transcript": "NM_001385454.1",
"protein_id": "NP_001372383.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 521,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2410C>T",
"hgvs_p": "p.His804Tyr",
"transcript": "XM_011532391.3",
"protein_id": "XP_011530693.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 947,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2410C>T",
"hgvs_p": "p.His804Tyr",
"transcript": "XM_024454273.2",
"protein_id": "XP_024310041.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 947,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2657,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_024454274.2",
"protein_id": "XP_024310042.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416352.1",
"protein_id": "XP_047272308.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416353.1",
"protein_id": "XP_047272309.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416354.1",
"protein_id": "XP_047272310.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 938,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416356.1",
"protein_id": "XP_047272312.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 9096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416357.1",
"protein_id": "XP_047272313.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 8777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416358.1",
"protein_id": "XP_047272314.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 8644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr",
"transcript": "XM_047416359.1",
"protein_id": "XP_047272315.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 924,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3083,
"cdna_end": null,
"cdna_length": 9097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2206C>T",
"hgvs_p": "p.His736Tyr",
"transcript": "XM_047416360.1",
"protein_id": "XP_047272316.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 865,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 8606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.His727Tyr",
"transcript": "XM_047416361.1",
"protein_id": "XP_047272317.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 856,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 8579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.His727Tyr",
"transcript": "XM_047416362.1",
"protein_id": "XP_047272318.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 856,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 8644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2092C>T",
"hgvs_p": "p.His698Tyr",
"transcript": "XM_017008797.2",
"protein_id": "XP_016864286.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 841,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.His675Tyr",
"transcript": "XM_047416363.1",
"protein_id": "XP_047272319.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 818,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.His619Tyr",
"transcript": "XM_017008798.2",
"protein_id": "XP_016864287.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 762,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.*1219C>T",
"hgvs_p": null,
"transcript": "ENST00000512630.5",
"protein_id": "ENSP00000423771.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2492C>T",
"hgvs_p": null,
"transcript": "NR_169599.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2373C>T",
"hgvs_p": null,
"transcript": "NR_169614.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2725C>T",
"hgvs_p": null,
"transcript": "NR_169615.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2265C>T",
"hgvs_p": null,
"transcript": "NR_169616.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2485C>T",
"hgvs_p": null,
"transcript": "NR_169617.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2325C>T",
"hgvs_p": null,
"transcript": "NR_169618.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2377C>T",
"hgvs_p": null,
"transcript": "NR_169619.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2347C>T",
"hgvs_p": null,
"transcript": "NR_169623.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.2281C>T",
"hgvs_p": null,
"transcript": "NR_169624.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "n.*1219C>T",
"hgvs_p": null,
"transcript": "ENST00000512630.5",
"protein_id": "ENSP00000423771.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"dbsnp": "rs143281990",
"frequency_reference_population": 0.00009063682,
"hom_count_reference_population": 0,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.0000897567,
"gnomad_genomes_af": 0.0000985623,
"gnomad_exomes_ac": 123,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0859566330909729,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.852,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001101669.3",
"gene_symbol": "INPP4B",
"hgnc_id": 6075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2383C>T",
"hgvs_p": "p.His795Tyr"
}
],
"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
}