← 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: 2-208325908-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208325908&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208325908,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015040.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>A",
"hgvs_p": "p.Ser1033Thr",
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3097,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015040.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>A",
"hgvs_p": "p.Ser1033Thr",
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": 1033,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3097,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264380.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*2448T>A",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"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": "ENST00000443896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*2448T>A",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"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": "ENST00000443896.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3112T>A",
"hgvs_p": "p.Ser1038Thr",
"transcript": "ENST00000909798.1",
"protein_id": "ENSP00000579857.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 2103,
"cds_start": 3112,
"cds_end": null,
"cds_length": 6312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909798.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3079T>A",
"hgvs_p": "p.Ser1027Thr",
"transcript": "ENST00000923116.1",
"protein_id": "ENSP00000593175.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 2092,
"cds_start": 3079,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923116.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2911T>A",
"hgvs_p": "p.Ser971Thr",
"transcript": "ENST00000923111.1",
"protein_id": "ENSP00000593170.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2911,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923111.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>A",
"hgvs_p": "p.Ser936Thr",
"transcript": "ENST00000923110.1",
"protein_id": "ENSP00000593169.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2806,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923110.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>A",
"hgvs_p": "p.Ser936Thr",
"transcript": "ENST00000923112.1",
"protein_id": "ENSP00000593171.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2806,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923112.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2800T>A",
"hgvs_p": "p.Ser934Thr",
"transcript": "ENST00000923117.1",
"protein_id": "ENSP00000593176.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1999,
"cds_start": 2800,
"cds_end": null,
"cds_length": 6000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923117.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2788T>A",
"hgvs_p": "p.Ser930Thr",
"transcript": "ENST00000923113.1",
"protein_id": "ENSP00000593172.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1995,
"cds_start": 2788,
"cds_end": null,
"cds_length": 5988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923113.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>A",
"hgvs_p": "p.Ser886Thr",
"transcript": "ENST00000960156.1",
"protein_id": "ENSP00000630215.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960156.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>A",
"hgvs_p": "p.Ser886Thr",
"transcript": "ENST00000960157.1",
"protein_id": "ENSP00000630216.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960157.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2638T>A",
"hgvs_p": "p.Ser880Thr",
"transcript": "ENST00000923115.1",
"protein_id": "ENSP00000593174.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1945,
"cds_start": 2638,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923115.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>A",
"hgvs_p": "p.Ser886Thr",
"transcript": "ENST00000960158.1",
"protein_id": "ENSP00000630217.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1896,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960158.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2488T>A",
"hgvs_p": "p.Ser830Thr",
"transcript": "ENST00000923114.1",
"protein_id": "ENSP00000593173.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 5688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923114.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2929T>A",
"hgvs_p": "p.Ser977Thr",
"transcript": "ENST00000452564.1",
"protein_id": "ENSP00000405736.1",
"transcript_support_level": 2,
"aa_start": 977,
"aa_end": null,
"aa_length": 1383,
"cds_start": 2929,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452564.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3133T>A",
"hgvs_p": "p.Ser1045Thr",
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3133,
"cds_end": null,
"cds_length": 6333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510778.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3133T>A",
"hgvs_p": "p.Ser1045Thr",
"transcript": "XM_011510779.3",
"protein_id": "XP_011509081.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3133,
"cds_end": null,
"cds_length": 6333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510779.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3130T>A",
"hgvs_p": "p.Ser1044Thr",
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2109,
"cds_start": 3130,
"cds_end": null,
"cds_length": 6330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510780.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3115T>A",
"hgvs_p": "p.Ser1039Thr",
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 2104,
"cds_start": 3115,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510781.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>A",
"hgvs_p": "p.Ser1033Thr",
"transcript": "XM_047443667.1",
"protein_id": "XP_047299623.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3097,
"cds_end": null,
"cds_length": 6297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443667.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3079T>A",
"hgvs_p": "p.Ser1027Thr",
"transcript": "XM_017003568.2",
"protein_id": "XP_016859057.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 2092,
"cds_start": 3079,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003568.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3133T>A",
"hgvs_p": "p.Ser1045Thr",
"transcript": "XM_011510782.4",
"protein_id": "XP_011509084.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 2055,
"cds_start": 3133,
"cds_end": null,
"cds_length": 6168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510782.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2965T>A",
"hgvs_p": "p.Ser989Thr",
"transcript": "XM_011510783.4",
"protein_id": "XP_011509085.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 2054,
"cds_start": 2965,
"cds_end": null,
"cds_length": 6165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510783.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2962T>A",
"hgvs_p": "p.Ser988Thr",
"transcript": "XM_011510784.3",
"protein_id": "XP_011509086.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 2053,
"cds_start": 2962,
"cds_end": null,
"cds_length": 6162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510784.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2947T>A",
"hgvs_p": "p.Ser983Thr",
"transcript": "XM_011510785.4",
"protein_id": "XP_011509087.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 2048,
"cds_start": 2947,
"cds_end": null,
"cds_length": 6147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510785.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>A",
"hgvs_p": "p.Ser1033Thr",
"transcript": "XM_047443670.1",
"protein_id": "XP_047299626.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 2043,
"cds_start": 3097,
"cds_end": null,
"cds_length": 6132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443670.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2929T>A",
"hgvs_p": "p.Ser977Thr",
"transcript": "XM_047443671.1",
"protein_id": "XP_047299627.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 2042,
"cds_start": 2929,
"cds_end": null,
"cds_length": 6129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443671.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2929T>A",
"hgvs_p": "p.Ser977Thr",
"transcript": "XM_047443672.1",
"protein_id": "XP_047299628.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 2042,
"cds_start": 2929,
"cds_end": null,
"cds_length": 6129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443672.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3079T>A",
"hgvs_p": "p.Ser1027Thr",
"transcript": "XM_047443673.1",
"protein_id": "XP_047299629.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 2037,
"cds_start": 3079,
"cds_end": null,
"cds_length": 6114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443673.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2911T>A",
"hgvs_p": "p.Ser971Thr",
"transcript": "XM_017003569.2",
"protein_id": "XP_016859058.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2911,
"cds_end": null,
"cds_length": 6111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003569.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2842T>A",
"hgvs_p": "p.Ser948Thr",
"transcript": "XM_011510786.4",
"protein_id": "XP_011509088.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 2013,
"cds_start": 2842,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510786.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2839T>A",
"hgvs_p": "p.Ser947Thr",
"transcript": "XM_011510787.2",
"protein_id": "XP_011509089.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 2012,
"cds_start": 2839,
"cds_end": null,
"cds_length": 6039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510787.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>A",
"hgvs_p": "p.Ser936Thr",
"transcript": "XM_011510788.2",
"protein_id": "XP_011509090.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2806,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510788.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>A",
"hgvs_p": "p.Ser936Thr",
"transcript": "XM_047443674.1",
"protein_id": "XP_047299630.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2806,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443674.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2788T>A",
"hgvs_p": "p.Ser930Thr",
"transcript": "XM_047443676.1",
"protein_id": "XP_047299632.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1995,
"cds_start": 2788,
"cds_end": null,
"cds_length": 5988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443676.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2929T>A",
"hgvs_p": "p.Ser977Thr",
"transcript": "XM_047443677.1",
"protein_id": "XP_047299633.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1987,
"cds_start": 2929,
"cds_end": null,
"cds_length": 5964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443677.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2911T>A",
"hgvs_p": "p.Ser971Thr",
"transcript": "XM_047443679.1",
"protein_id": "XP_047299635.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1981,
"cds_start": 2911,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443679.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2674T>A",
"hgvs_p": "p.Ser892Thr",
"transcript": "XM_047443680.1",
"protein_id": "XP_047299636.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1957,
"cds_start": 2674,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443680.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>A",
"hgvs_p": "p.Ser886Thr",
"transcript": "XM_011510789.3",
"protein_id": "XP_011509091.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510789.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>A",
"hgvs_p": "p.Ser936Thr",
"transcript": "XM_047443681.1",
"protein_id": "XP_047299637.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1946,
"cds_start": 2806,
"cds_end": null,
"cds_length": 5841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443681.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2638T>A",
"hgvs_p": "p.Ser880Thr",
"transcript": "XM_017003570.2",
"protein_id": "XP_016859059.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1945,
"cds_start": 2638,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003570.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2638T>A",
"hgvs_p": "p.Ser880Thr",
"transcript": "XM_047443682.1",
"protein_id": "XP_047299638.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1945,
"cds_start": 2638,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443682.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2788T>A",
"hgvs_p": "p.Ser930Thr",
"transcript": "XM_047443686.1",
"protein_id": "XP_047299642.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1940,
"cds_start": 2788,
"cds_end": null,
"cds_length": 5823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443686.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2620T>A",
"hgvs_p": "p.Ser874Thr",
"transcript": "XM_047443687.1",
"protein_id": "XP_047299643.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1939,
"cds_start": 2620,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443687.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>A",
"hgvs_p": "p.Ser886Thr",
"transcript": "XM_047443689.1",
"protein_id": "XP_047299645.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1896,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443689.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2488T>A",
"hgvs_p": "p.Ser830Thr",
"transcript": "XM_017003571.2",
"protein_id": "XP_016859060.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 5688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003571.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2638T>A",
"hgvs_p": "p.Ser880Thr",
"transcript": "XM_047443690.1",
"protein_id": "XP_047299646.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1890,
"cds_start": 2638,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443690.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2470T>A",
"hgvs_p": "p.Ser824Thr",
"transcript": "XM_047443695.1",
"protein_id": "XP_047299651.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1889,
"cds_start": 2470,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443695.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2620T>A",
"hgvs_p": "p.Ser874Thr",
"transcript": "XM_047443696.1",
"protein_id": "XP_047299652.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1884,
"cds_start": 2620,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443696.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2140T>A",
"hgvs_p": "p.Ser714Thr",
"transcript": "XM_017003574.2",
"protein_id": "XP_016859063.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1779,
"cds_start": 2140,
"cds_end": null,
"cds_length": 5340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003574.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2140T>A",
"hgvs_p": "p.Ser714Thr",
"transcript": "XM_047443698.1",
"protein_id": "XP_047299654.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1779,
"cds_start": 2140,
"cds_end": null,
"cds_length": 5340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443698.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3133T>A",
"hgvs_p": "p.Ser1045Thr",
"transcript": "XM_011510792.4",
"protein_id": "XP_011509094.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3133,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510792.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.3303T>A",
"hgvs_p": null,
"transcript": "XR_007070607.1",
"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_007070607.1"
}
],
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"dbsnp": "rs999890",
"frequency_reference_population": 0.000004104877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410488,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04591745138168335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.811,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015040.4",
"gene_symbol": "PIKFYVE",
"hgnc_id": 23785,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3097T>A",
"hgvs_p": "p.Ser1033Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}