← 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: 2-240719196-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240719196&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240719196,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001379631.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "NM_001244008.2",
"protein_id": "NP_001230937.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5182,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "ENST00000498729.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244008.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "ENST00000498729.9",
"protein_id": "ENSP00000438388.1",
"transcript_support_level": 5,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5182,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "NM_001244008.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498729.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.1581C>T",
"hgvs_p": null,
"transcript": "ENST00000460788.5",
"protein_id": null,
"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": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460788.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3607C>T",
"hgvs_p": null,
"transcript": "ENST00000492812.6",
"protein_id": null,
"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": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492812.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5044C>T",
"hgvs_p": "p.Arg1682*",
"transcript": "ENST00000675932.2",
"protein_id": "ENSP00000502786.2",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1894,
"cds_start": 5044,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 5202,
"cdna_end": null,
"cdna_length": 9151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675932.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5153C>T",
"hgvs_p": "p.Pro1718Leu",
"transcript": "ENST00000675314.2",
"protein_id": "ENSP00000502584.2",
"transcript_support_level": null,
"aa_start": 1718,
"aa_end": null,
"aa_length": 1834,
"cds_start": 5153,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 5311,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675314.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5150C>T",
"hgvs_p": "p.Pro1717Leu",
"transcript": "ENST00000674607.2",
"protein_id": "ENSP00000501825.2",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 1833,
"cds_start": 5150,
"cds_end": null,
"cds_length": 5502,
"cdna_start": 5308,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674607.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5126C>T",
"hgvs_p": "p.Pro1709Leu",
"transcript": "ENST00000448728.2",
"protein_id": "ENSP00000398686.2",
"transcript_support_level": 5,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5596,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448728.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5099C>T",
"hgvs_p": "p.Pro1700Leu",
"transcript": "NM_001379631.1",
"protein_id": "NP_001366560.1",
"transcript_support_level": null,
"aa_start": 1700,
"aa_end": null,
"aa_length": 1816,
"cds_start": 5099,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 5257,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379631.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5075C>T",
"hgvs_p": "p.Pro1692Leu",
"transcript": "ENST00000675126.2",
"protein_id": "ENSP00000501874.2",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 5229,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675126.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5060C>T",
"hgvs_p": "p.Pro1687Leu",
"transcript": "ENST00000674975.2",
"protein_id": "ENSP00000502241.2",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1803,
"cds_start": 5060,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 5218,
"cdna_end": null,
"cdna_length": 9167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674975.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5048C>T",
"hgvs_p": "p.Pro1683Leu",
"transcript": "ENST00000404283.9",
"protein_id": "ENSP00000384231.5",
"transcript_support_level": 5,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1799,
"cds_start": 5048,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 5295,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404283.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5039C>T",
"hgvs_p": "p.Pro1680Leu",
"transcript": "ENST00000676050.2",
"protein_id": "ENSP00000501938.2",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1796,
"cds_start": 5039,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 5197,
"cdna_end": null,
"cdna_length": 9146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676050.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "NM_001379642.1",
"protein_id": "NP_001366571.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5182,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379642.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "ENST00000647572.2",
"protein_id": "ENSP00000497953.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5308,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647572.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "ENST00000674664.2",
"protein_id": "ENSP00000501778.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5115,
"cdna_end": null,
"cdna_length": 9064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674664.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "ENST00000674907.2",
"protein_id": "ENSP00000502048.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5410,
"cdna_end": null,
"cdna_length": 9359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674907.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "ENST00000675152.2",
"protein_id": "ENSP00000501849.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5255,
"cdna_end": null,
"cdna_length": 9204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675152.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5024C>T",
"hgvs_p": "p.Pro1675Leu",
"transcript": "ENST00000675940.2",
"protein_id": "ENSP00000501962.2",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5024,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5158,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675940.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5000C>T",
"hgvs_p": "p.Pro1667Leu",
"transcript": "NM_001379632.1",
"protein_id": "NP_001366561.1",
"transcript_support_level": null,
"aa_start": 1667,
"aa_end": null,
"aa_length": 1783,
"cds_start": 5000,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 5158,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379632.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4997C>T",
"hgvs_p": "p.Pro1666Leu",
"transcript": "NM_001379633.1",
"protein_id": "NP_001366562.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 5155,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379633.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4997C>T",
"hgvs_p": "p.Pro1666Leu",
"transcript": "NM_001379645.1",
"protein_id": "NP_001366574.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 5181,
"cdna_end": null,
"cdna_length": 9130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379645.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4997C>T",
"hgvs_p": "p.Pro1666Leu",
"transcript": "ENST00000648129.1",
"protein_id": "ENSP00000497293.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 5148,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648129.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4997C>T",
"hgvs_p": "p.Pro1666Leu",
"transcript": "ENST00000650130.1",
"protein_id": "ENSP00000498082.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 5178,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650130.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4997C>T",
"hgvs_p": "p.Pro1666Leu",
"transcript": "ENST00000715177.1",
"protein_id": "ENSP00000520373.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4997,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715177.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4850C>T",
"hgvs_p": "p.Pro1617Leu",
"transcript": "NM_001379634.1",
"protein_id": "NP_001366563.1",
"transcript_support_level": null,
"aa_start": 1617,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4850,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 5008,
"cdna_end": null,
"cdna_length": 8957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379634.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4850C>T",
"hgvs_p": "p.Pro1617Leu",
"transcript": "ENST00000942883.1",
"protein_id": "ENSP00000612942.1",
"transcript_support_level": null,
"aa_start": 1617,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4850,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942883.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4847C>T",
"hgvs_p": "p.Pro1616Leu",
"transcript": "NM_001379635.1",
"protein_id": "NP_001366564.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4847,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5031,
"cdna_end": null,
"cdna_length": 8980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379635.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4847C>T",
"hgvs_p": "p.Pro1616Leu",
"transcript": "NM_001379646.1",
"protein_id": "NP_001366575.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4847,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5005,
"cdna_end": null,
"cdna_length": 8954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4847C>T",
"hgvs_p": "p.Pro1616Leu",
"transcript": "ENST00000648047.2",
"protein_id": "ENSP00000497935.2",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4847,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5005,
"cdna_end": null,
"cdna_length": 8951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648047.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4835C>T",
"hgvs_p": "p.Pro1612Leu",
"transcript": "NM_001379636.1",
"protein_id": "NP_001366565.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4835,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 4993,
"cdna_end": null,
"cdna_length": 8942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379636.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4835C>T",
"hgvs_p": "p.Pro1612Leu",
"transcript": "ENST00000647885.1",
"protein_id": "ENSP00000497739.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4835,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 4993,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647885.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4823C>T",
"hgvs_p": "p.Pro1608Leu",
"transcript": "NM_001330290.2",
"protein_id": "NP_001317219.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4823,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4981,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330290.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4823C>T",
"hgvs_p": "p.Pro1608Leu",
"transcript": "NM_001379648.1",
"protein_id": "NP_001366577.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4823,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4981,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379648.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4823C>T",
"hgvs_p": "p.Pro1608Leu",
"transcript": "ENST00000649306.1",
"protein_id": "ENSP00000497678.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4823,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4974,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649306.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4799C>T",
"hgvs_p": "p.Pro1600Leu",
"transcript": "ENST00000431776.7",
"protein_id": "ENSP00000414613.3",
"transcript_support_level": 5,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4799,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 4957,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431776.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4796C>T",
"hgvs_p": "p.Pro1599Leu",
"transcript": "NM_001379637.1",
"protein_id": "NP_001366566.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4796,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 8903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379637.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4775C>T",
"hgvs_p": "p.Pro1592Leu",
"transcript": "NM_001330289.2",
"protein_id": "NP_001317218.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4775,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 4933,
"cdna_end": null,
"cdna_length": 8882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330289.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4775C>T",
"hgvs_p": "p.Pro1592Leu",
"transcript": "ENST00000648680.1",
"protein_id": "ENSP00000497586.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4775,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 4926,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648680.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Pro1591Leu",
"transcript": "NM_001379638.1",
"protein_id": "NP_001366567.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4930,
"cdna_end": null,
"cdna_length": 8879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379638.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Pro1591Leu",
"transcript": "ENST00000942882.1",
"protein_id": "ENSP00000612941.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4772,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4933,
"cdna_end": null,
"cdna_length": 8881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942882.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Pro1583Leu",
"transcript": "NM_001320705.2",
"protein_id": "NP_001307634.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4748,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320705.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Pro1583Leu",
"transcript": "NM_001379649.1",
"protein_id": "NP_001366578.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4748,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379649.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Pro1583Leu",
"transcript": "ENST00000647731.1",
"protein_id": "ENSP00000498099.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4748,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4898,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647731.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Pro1583Leu",
"transcript": "ENST00000648364.1",
"protein_id": "ENSP00000498196.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4748,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648364.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4745C>T",
"hgvs_p": "p.Pro1582Leu",
"transcript": "NM_001379639.1",
"protein_id": "NP_001366568.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4745,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 4903,
"cdna_end": null,
"cdna_length": 8852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379639.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4745C>T",
"hgvs_p": "p.Pro1582Leu",
"transcript": "ENST00000320389.12",
"protein_id": "ENSP00000322791.8",
"transcript_support_level": 5,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4745,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 4903,
"cdna_end": null,
"cdna_length": 8785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320389.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "NM_001379650.1",
"protein_id": "NP_001366579.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4905,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379650.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "NM_001379651.1",
"protein_id": "NP_001366580.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4953,
"cdna_end": null,
"cdna_length": 8902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379651.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "NM_001379653.1",
"protein_id": "NP_001366582.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4845,
"cdna_end": null,
"cdna_length": 8794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379653.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "NM_004321.8",
"protein_id": "NP_004312.2",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4879,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004321.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "ENST00000649096.1",
"protein_id": "ENSP00000497030.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 5032,
"cdna_end": null,
"cdna_length": 8987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649096.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "ENST00000650053.1",
"protein_id": "ENSP00000497824.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4891,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650053.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "ENST00000942881.1",
"protein_id": "ENSP00000612940.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4979,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942881.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4718C>T",
"hgvs_p": "p.Pro1573Leu",
"transcript": "NM_001379640.1",
"protein_id": "NP_001366569.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4718,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4876,
"cdna_end": null,
"cdna_length": 8825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379640.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4721C>T",
"hgvs_p": "p.Pro1574Leu",
"transcript": "NM_001379641.1",
"protein_id": "NP_001366570.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4721,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 4879,
"cdna_end": null,
"cdna_length": 8792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379641.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5126C>T",
"hgvs_p": "p.Pro1709Leu",
"transcript": "XM_047444818.1",
"protein_id": "XP_047300774.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5284,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444818.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5126C>T",
"hgvs_p": "p.Pro1709Leu",
"transcript": "XM_047444819.1",
"protein_id": "XP_047300775.1",
"transcript_support_level": null,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5310,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444819.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5123C>T",
"hgvs_p": "p.Pro1708Leu",
"transcript": "XM_047444820.1",
"protein_id": "XP_047300776.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 1824,
"cds_start": 5123,
"cds_end": null,
"cds_length": 5475,
"cdna_start": 5281,
"cdna_end": null,
"cdna_length": 9230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444820.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.5051C>T",
"hgvs_p": "p.Pro1684Leu",
"transcript": "XM_047444821.1",
"protein_id": "XP_047300777.1",
"transcript_support_level": null,
"aa_start": 1684,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5051,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5209,
"cdna_end": null,
"cdna_length": 9158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.5881C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9831,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488776.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.4018C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7928,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.4096C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*4974C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9219,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674793.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*311C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9296,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675644.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*4974C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9219,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674793.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*311C>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9296,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675644.2"
}
],
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"dbsnp": "rs779705838",
"frequency_reference_population": 0.000009354024,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000964541,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8019143342971802,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.413,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.593,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001379631.1",
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5099C>T",
"hgvs_p": "p.Pro1700Leu"
}
],
"clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia 30,Intellectual disability,Neuropathy,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3 O:1",
"phenotype_combined": "Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Hereditary spastic paraplegia 30|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}