← 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: 2-240722462-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240722462&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240722462,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000498729.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "NM_001244008.2",
"protein_id": "NP_001230937.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "ENST00000498729.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000498729.9",
"protein_id": "ENSP00000438388.1",
"transcript_support_level": 5,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "NM_001244008.2",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.1216C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5533,
"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": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3242C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000675932.2",
"protein_id": "ENSP00000502786.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 9151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4788C>T",
"hgvs_p": "p.Ala1596Ala",
"transcript": "ENST00000675314.2",
"protein_id": "ENSP00000502584.2",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1834,
"cds_start": 4788,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 4946,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4785C>T",
"hgvs_p": "p.Ala1595Ala",
"transcript": "ENST00000674607.2",
"protein_id": "ENSP00000501825.2",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 1833,
"cds_start": 4785,
"cds_end": null,
"cds_length": 5502,
"cdna_start": 4943,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4761C>T",
"hgvs_p": "p.Ala1587Ala",
"transcript": "ENST00000448728.2",
"protein_id": "ENSP00000398686.2",
"transcript_support_level": 5,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5231,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4734C>T",
"hgvs_p": "p.Ala1578Ala",
"transcript": "NM_001379631.1",
"protein_id": "NP_001366560.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4734,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 4892,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4710C>T",
"hgvs_p": "p.Ala1570Ala",
"transcript": "ENST00000675126.2",
"protein_id": "ENSP00000501874.2",
"transcript_support_level": null,
"aa_start": 1570,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4710,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4864,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4695C>T",
"hgvs_p": "p.Ala1565Ala",
"transcript": "ENST00000674975.2",
"protein_id": "ENSP00000502241.2",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1803,
"cds_start": 4695,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 4853,
"cdna_end": null,
"cdna_length": 9167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4683C>T",
"hgvs_p": "p.Ala1561Ala",
"transcript": "ENST00000404283.9",
"protein_id": "ENSP00000384231.5",
"transcript_support_level": 5,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1799,
"cds_start": 4683,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 4930,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000676050.2",
"protein_id": "ENSP00000501938.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 9146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "NM_001379642.1",
"protein_id": "NP_001366571.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4817,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000647572.2",
"protein_id": "ENSP00000497953.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4943,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000674664.2",
"protein_id": "ENSP00000501778.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4750,
"cdna_end": null,
"cdna_length": 9064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000674907.2",
"protein_id": "ENSP00000502048.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5045,
"cdna_end": null,
"cdna_length": 9359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000675152.2",
"protein_id": "ENSP00000501849.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4890,
"cdna_end": null,
"cdna_length": 9204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala",
"transcript": "ENST00000675940.2",
"protein_id": "ENSP00000501962.2",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4659,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4635C>T",
"hgvs_p": "p.Ala1545Ala",
"transcript": "NM_001379632.1",
"protein_id": "NP_001366561.1",
"transcript_support_level": null,
"aa_start": 1545,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4635,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4793,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4632C>T",
"hgvs_p": "p.Ala1544Ala",
"transcript": "NM_001379633.1",
"protein_id": "NP_001366562.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4632,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4790,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4632C>T",
"hgvs_p": "p.Ala1544Ala",
"transcript": "NM_001379645.1",
"protein_id": "NP_001366574.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4632,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4816,
"cdna_end": null,
"cdna_length": 9130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4632C>T",
"hgvs_p": "p.Ala1544Ala",
"transcript": "ENST00000648129.1",
"protein_id": "ENSP00000497293.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4632,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4783,
"cdna_end": null,
"cdna_length": 5859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4632C>T",
"hgvs_p": "p.Ala1544Ala",
"transcript": "ENST00000650130.1",
"protein_id": "ENSP00000498082.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4632,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4813,
"cdna_end": null,
"cdna_length": 5918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4632C>T",
"hgvs_p": "p.Ala1544Ala",
"transcript": "ENST00000715177.1",
"protein_id": "ENSP00000520373.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4632,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4744,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4485C>T",
"hgvs_p": "p.Ala1495Ala",
"transcript": "NM_001379634.1",
"protein_id": "NP_001366563.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4485,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 4643,
"cdna_end": null,
"cdna_length": 8957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4482C>T",
"hgvs_p": "p.Ala1494Ala",
"transcript": "NM_001379635.1",
"protein_id": "NP_001366564.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4482,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4666,
"cdna_end": null,
"cdna_length": 8980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4482C>T",
"hgvs_p": "p.Ala1494Ala",
"transcript": "NM_001379646.1",
"protein_id": "NP_001366575.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4482,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4640,
"cdna_end": null,
"cdna_length": 8954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4482C>T",
"hgvs_p": "p.Ala1494Ala",
"transcript": "ENST00000648047.2",
"protein_id": "ENSP00000497935.2",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4482,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 4640,
"cdna_end": null,
"cdna_length": 8951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4470C>T",
"hgvs_p": "p.Ala1490Ala",
"transcript": "NM_001379636.1",
"protein_id": "NP_001366565.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4470,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 8942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4470C>T",
"hgvs_p": "p.Ala1490Ala",
"transcript": "ENST00000647885.1",
"protein_id": "ENSP00000497739.1",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4470,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4458C>T",
"hgvs_p": "p.Ala1486Ala",
"transcript": "NM_001330290.2",
"protein_id": "NP_001317219.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4458,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4616,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4458C>T",
"hgvs_p": "p.Ala1486Ala",
"transcript": "NM_001379648.1",
"protein_id": "NP_001366577.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4458,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4616,
"cdna_end": null,
"cdna_length": 8930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4458C>T",
"hgvs_p": "p.Ala1486Ala",
"transcript": "ENST00000649306.1",
"protein_id": "ENSP00000497678.1",
"transcript_support_level": null,
"aa_start": 1486,
"aa_end": null,
"aa_length": 1724,
"cds_start": 4458,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4609,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4434C>T",
"hgvs_p": "p.Ala1478Ala",
"transcript": "ENST00000431776.7",
"protein_id": "ENSP00000414613.3",
"transcript_support_level": 5,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4434,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4431C>T",
"hgvs_p": "p.Ala1477Ala",
"transcript": "NM_001379637.1",
"protein_id": "NP_001366566.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4431,
"cds_end": null,
"cds_length": 5148,
"cdna_start": 4589,
"cdna_end": null,
"cdna_length": 8903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4410C>T",
"hgvs_p": "p.Ala1470Ala",
"transcript": "NM_001330289.2",
"protein_id": "NP_001317218.1",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4410,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 4568,
"cdna_end": null,
"cdna_length": 8882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4410C>T",
"hgvs_p": "p.Ala1470Ala",
"transcript": "ENST00000648680.1",
"protein_id": "ENSP00000497586.1",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4410,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 4561,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4407C>T",
"hgvs_p": "p.Ala1469Ala",
"transcript": "NM_001379638.1",
"protein_id": "NP_001366567.1",
"transcript_support_level": null,
"aa_start": 1469,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4407,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4565,
"cdna_end": null,
"cdna_length": 8879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4383C>T",
"hgvs_p": "p.Ala1461Ala",
"transcript": "NM_001320705.2",
"protein_id": "NP_001307634.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4383,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4383C>T",
"hgvs_p": "p.Ala1461Ala",
"transcript": "NM_001379649.1",
"protein_id": "NP_001366578.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4383,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 8855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4383C>T",
"hgvs_p": "p.Ala1461Ala",
"transcript": "ENST00000647731.1",
"protein_id": "ENSP00000498099.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4383,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4383C>T",
"hgvs_p": "p.Ala1461Ala",
"transcript": "ENST00000648364.1",
"protein_id": "ENSP00000498196.1",
"transcript_support_level": null,
"aa_start": 1461,
"aa_end": null,
"aa_length": 1699,
"cds_start": 4383,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4380C>T",
"hgvs_p": "p.Ala1460Ala",
"transcript": "NM_001379639.1",
"protein_id": "NP_001366568.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4380,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 4538,
"cdna_end": null,
"cdna_length": 8852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4380C>T",
"hgvs_p": "p.Ala1460Ala",
"transcript": "ENST00000320389.12",
"protein_id": "ENSP00000322791.8",
"transcript_support_level": 5,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1698,
"cds_start": 4380,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 4538,
"cdna_end": null,
"cdna_length": 8785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "NM_001379650.1",
"protein_id": "NP_001366579.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4540,
"cdna_end": null,
"cdna_length": 8854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "NM_001379651.1",
"protein_id": "NP_001366580.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4588,
"cdna_end": null,
"cdna_length": 8902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "NM_001379653.1",
"protein_id": "NP_001366582.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4480,
"cdna_end": null,
"cdna_length": 8794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "NM_004321.8",
"protein_id": "NP_004312.2",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 8828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "ENST00000649096.1",
"protein_id": "ENSP00000497030.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4667,
"cdna_end": null,
"cdna_length": 8987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "ENST00000650053.1",
"protein_id": "ENSP00000497824.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 4526,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4353C>T",
"hgvs_p": "p.Ala1451Ala",
"transcript": "NM_001379640.1",
"protein_id": "NP_001366569.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4353,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4511,
"cdna_end": null,
"cdna_length": 8825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4356C>T",
"hgvs_p": "p.Ala1452Ala",
"transcript": "NM_001379641.1",
"protein_id": "NP_001366570.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4356,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 8792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4761C>T",
"hgvs_p": "p.Ala1587Ala",
"transcript": "XM_047444818.1",
"protein_id": "XP_047300774.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4919,
"cdna_end": null,
"cdna_length": 9233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4761C>T",
"hgvs_p": "p.Ala1587Ala",
"transcript": "XM_047444819.1",
"protein_id": "XP_047300775.1",
"transcript_support_level": null,
"aa_start": 1587,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4761,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 4945,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4758C>T",
"hgvs_p": "p.Ala1586Ala",
"transcript": "XM_047444820.1",
"protein_id": "XP_047300776.1",
"transcript_support_level": null,
"aa_start": 1586,
"aa_end": null,
"aa_length": 1824,
"cds_start": 4758,
"cds_end": null,
"cds_length": 5475,
"cdna_start": 4916,
"cdna_end": null,
"cdna_length": 9230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4686C>T",
"hgvs_p": "p.Ala1562Ala",
"transcript": "XM_047444821.1",
"protein_id": "XP_047300777.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4686,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 4844,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.219C>T",
"hgvs_p": null,
"transcript": "ENST00000465813.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 715,
"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": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.4529C>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": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3653C>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": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3731C>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": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*4609C>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": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.4659C>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": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.*4609C>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": "rs1269754231",
"frequency_reference_population": 0.00004268027,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000430354,
"gnomad_genomes_af": 0.0000394265,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.736,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000498729.9",
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4659C>T",
"hgvs_p": "p.Ala1553Ala"
}
],
"clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia 30,Inborn genetic diseases,Intellectual disability,Neuropathy,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C|Inborn genetic diseases|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}