← 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: 2-240746081-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240746081&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240746081,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000498729.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "NM_001244008.2",
"protein_id": "NP_001230937.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "ENST00000498729.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000498729.9",
"protein_id": "ENSP00000438388.1",
"transcript_support_level": 5,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "NM_001244008.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000675932.2",
"protein_id": "ENSP00000502786.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1894,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 9151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3289G>T",
"hgvs_p": "p.Val1097Leu",
"transcript": "ENST00000675314.2",
"protein_id": "ENSP00000502584.2",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1834,
"cds_start": 3289,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3286G>T",
"hgvs_p": "p.Val1096Leu",
"transcript": "ENST00000674607.2",
"protein_id": "ENSP00000501825.2",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1833,
"cds_start": 3286,
"cds_end": null,
"cds_length": 5502,
"cdna_start": 3444,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Val1079Leu",
"transcript": "ENST00000448728.2",
"protein_id": "ENSP00000398686.2",
"transcript_support_level": 5,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1825,
"cds_start": 3235,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 3705,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Val1079Leu",
"transcript": "NM_001379631.1",
"protein_id": "NP_001366560.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1816,
"cds_start": 3235,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "ENST00000675126.2",
"protein_id": "ENSP00000501874.2",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1808,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 3287,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3196G>T",
"hgvs_p": "p.Val1066Leu",
"transcript": "ENST00000674975.2",
"protein_id": "ENSP00000502241.2",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1803,
"cds_start": 3196,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 9167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000404283.9",
"protein_id": "ENSP00000384231.5",
"transcript_support_level": 5,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1799,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 3407,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000676050.2",
"protein_id": "ENSP00000501938.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1796,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 9146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "NM_001379642.1",
"protein_id": "NP_001366571.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000647572.2",
"protein_id": "ENSP00000497953.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3444,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000674664.2",
"protein_id": "ENSP00000501778.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 9064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000674907.2",
"protein_id": "ENSP00000502048.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 9359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000675152.2",
"protein_id": "ENSP00000501849.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 9204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "ENST00000675940.2",
"protein_id": "ENSP00000501962.2",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3109G>T",
"hgvs_p": "p.Val1037Leu",
"transcript": "NM_001379632.1",
"protein_id": "NP_001366561.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1783,
"cds_start": 3109,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 3267,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "NM_001379633.1",
"protein_id": "NP_001366562.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1782,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "NM_001379645.1",
"protein_id": "NP_001366574.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1782,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 9130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "ENST00000648129.1",
"protein_id": "ENSP00000497293.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1782,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "ENST00000650130.1",
"protein_id": "ENSP00000498082.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1782,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 3314,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3133G>T",
"hgvs_p": "p.Val1045Leu",
"transcript": "ENST00000715177.1",
"protein_id": "ENSP00000520373.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1770,
"cds_start": 3133,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 3245,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Val987Leu",
"transcript": "NM_001379634.1",
"protein_id": "NP_001366563.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1733,
"cds_start": 2959,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 8957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Val987Leu",
"transcript": "NM_001379635.1",
"protein_id": "NP_001366564.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1732,
"cds_start": 2959,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 8980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Val987Leu",
"transcript": "NM_001379646.1",
"protein_id": "NP_001366575.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1732,
"cds_start": 2959,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 8954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Val987Leu",
"transcript": "ENST00000648047.2",
"protein_id": "ENSP00000497935.2",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1732,
"cds_start": 2959,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 8951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379636.1",
"protein_id": "NP_001366565.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1728,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "ENST00000647885.1",
"protein_id": "ENSP00000497739.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1728,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Val987Leu",
"transcript": "NM_001330290.2",
"protein_id": "NP_001317219.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1724,
"cds_start": 2959,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2932G>T",
"hgvs_p": "p.Val978Leu",
"transcript": "NM_001379648.1",
"protein_id": "NP_001366577.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1724,
"cds_start": 2932,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2959G>T",
"hgvs_p": "p.Val987Leu",
"transcript": "ENST00000649306.1",
"protein_id": "ENSP00000497678.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1724,
"cds_start": 2959,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 3110,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "ENST00000431776.7",
"protein_id": "ENSP00000414613.3",
"transcript_support_level": 5,
"aa_start": 962,
"aa_end": null,
"aa_length": 1716,
"cds_start": 2884,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2932G>T",
"hgvs_p": "p.Val978Leu",
"transcript": "NM_001379637.1",
"protein_id": "NP_001366566.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1715,
"cds_start": 2932,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 8903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "NM_001330289.2",
"protein_id": "NP_001317218.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1708,
"cds_start": 2884,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 8882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "ENST00000648680.1",
"protein_id": "ENSP00000497586.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1708,
"cds_start": 2884,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 3035,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "NM_001379638.1",
"protein_id": "NP_001366567.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1707,
"cds_start": 2884,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 8879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "NM_001320705.2",
"protein_id": "NP_001307634.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2884,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379649.1",
"protein_id": "NP_001366578.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "ENST00000647731.1",
"protein_id": "ENSP00000498099.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2884G>T",
"hgvs_p": "p.Val962Leu",
"transcript": "ENST00000648364.1",
"protein_id": "ENSP00000498196.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2884,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379639.1",
"protein_id": "NP_001366568.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1698,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "ENST00000320389.12",
"protein_id": "ENSP00000322791.8",
"transcript_support_level": 5,
"aa_start": 953,
"aa_end": null,
"aa_length": 1698,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379650.1",
"protein_id": "NP_001366579.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379651.1",
"protein_id": "NP_001366580.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3089,
"cdna_end": null,
"cdna_length": 8902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379653.1",
"protein_id": "NP_001366582.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 2981,
"cdna_end": null,
"cdna_length": 8794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_004321.8",
"protein_id": "NP_004312.2",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "ENST00000649096.1",
"protein_id": "ENSP00000497030.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 8987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "ENST00000650053.1",
"protein_id": "ENSP00000497824.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1690,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3027,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379640.1",
"protein_id": "NP_001366569.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1689,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Leu",
"transcript": "NM_001379641.1",
"protein_id": "NP_001366570.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1678,
"cds_start": 2857,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 8792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Val1079Leu",
"transcript": "XM_047444818.1",
"protein_id": "XP_047300774.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1825,
"cds_start": 3235,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Val1079Leu",
"transcript": "XM_047444819.1",
"protein_id": "XP_047300775.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1825,
"cds_start": 3235,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3235G>T",
"hgvs_p": "p.Val1079Leu",
"transcript": "XM_047444820.1",
"protein_id": "XP_047300776.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1824,
"cds_start": 3235,
"cds_end": null,
"cds_length": 5475,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 9230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu",
"transcript": "XM_047444821.1",
"protein_id": "XP_047300777.1",
"transcript_support_level": null,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1800,
"cds_start": 3160,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 9158,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.237G>T",
"hgvs_p": null,
"transcript": "ENST00000415042.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 550,
"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": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3003G>T",
"hgvs_p": null,
"transcript": "ENST00000488776.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 9831,
"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": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3015G>T",
"hgvs_p": null,
"transcript": "ENST00000649064.1",
"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": 4095,
"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": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.2154G>T",
"hgvs_p": null,
"transcript": "ENST00000649190.1",
"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": 7928,
"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": 18,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.2232G>T",
"hgvs_p": null,
"transcript": "ENST00000650430.1",
"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": 4729,
"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": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*3110G>T",
"hgvs_p": null,
"transcript": "ENST00000674793.2",
"protein_id": "ENSP00000501930.1",
"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": 9219,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.129G>T",
"hgvs_p": null,
"transcript": "ENST00000675421.1",
"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": 171,
"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": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3160G>T",
"hgvs_p": null,
"transcript": "ENST00000675644.2",
"protein_id": "ENSP00000502435.2",
"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": 9296,
"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": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*3110G>T",
"hgvs_p": null,
"transcript": "ENST00000674793.2",
"protein_id": "ENSP00000501930.1",
"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": 9219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"dbsnp": "rs371233697",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022220969200134277,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.58,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000498729.9",
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3160G>T",
"hgvs_p": "p.Val1054Leu"
}
],
"clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia 30,Intellectual disability,Neuropathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neuropathy, hereditary sensory, type 2C;Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}