← 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: 2-240719053-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240719053&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"hgvs_c": "c.5242G>A",
"hgvs_p": "p.Ala1748Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001379631.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_score": -3,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1449,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia 30,Inborn genetic diseases,Intellectual disability,Neuropathy,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24899470806121826,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 5325,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001244008.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000498729.9",
"protein_coding": true,
"protein_id": "NP_001230937.1",
"strand": false,
"transcript": "NM_001244008.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 5325,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000498729.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001244008.2",
"protein_coding": true,
"protein_id": "ENSP00000438388.1",
"strand": false,
"transcript": "ENST00000498729.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000460788.5",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.1724G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460788.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000492812.6",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.3750G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000492812.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "W",
"aa_start": 1729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9151,
"cdna_start": 5345,
"cds_end": null,
"cds_length": 5685,
"cds_start": 5187,
"consequences": [
"stop_gained"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000675932.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5187G>A",
"hgvs_p": "p.Trp1729*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502786.2",
"strand": false,
"transcript": "ENST00000675932.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "A",
"aa_start": 1766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9260,
"cdna_start": 5454,
"cds_end": null,
"cds_length": 5505,
"cds_start": 5296,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000675314.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5296G>A",
"hgvs_p": "p.Ala1766Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502584.2",
"strand": false,
"transcript": "ENST00000675314.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1833,
"aa_ref": "A",
"aa_start": 1765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 5451,
"cds_end": null,
"cds_length": 5502,
"cds_start": 5293,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000674607.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5293G>A",
"hgvs_p": "p.Ala1765Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501825.2",
"strand": false,
"transcript": "ENST00000674607.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "A",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 5739,
"cds_end": null,
"cds_length": 5478,
"cds_start": 5269,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000448728.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5269G>A",
"hgvs_p": "p.Ala1757Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398686.2",
"strand": false,
"transcript": "ENST00000448728.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "A",
"aa_start": 1748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9206,
"cdna_start": 5400,
"cds_end": null,
"cds_length": 5451,
"cds_start": 5242,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379631.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5242G>A",
"hgvs_p": "p.Ala1748Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366560.1",
"strand": false,
"transcript": "NM_001379631.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "A",
"aa_start": 1740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9177,
"cdna_start": 5372,
"cds_end": null,
"cds_length": 5427,
"cds_start": 5218,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000675126.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5218G>A",
"hgvs_p": "p.Ala1740Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501874.2",
"strand": false,
"transcript": "ENST00000675126.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "A",
"aa_start": 1735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9167,
"cdna_start": 5361,
"cds_end": null,
"cds_length": 5412,
"cds_start": 5203,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000674975.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5203G>A",
"hgvs_p": "p.Ala1735Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502241.2",
"strand": false,
"transcript": "ENST00000674975.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "A",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 5438,
"cds_end": null,
"cds_length": 5400,
"cds_start": 5191,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000404283.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5191G>A",
"hgvs_p": "p.Ala1731Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384231.5",
"strand": false,
"transcript": "ENST00000404283.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "A",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9146,
"cdna_start": 5340,
"cds_end": null,
"cds_length": 5391,
"cds_start": 5182,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000676050.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5182G>A",
"hgvs_p": "p.Ala1728Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501938.2",
"strand": false,
"transcript": "ENST00000676050.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 5325,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379642.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366571.1",
"strand": false,
"transcript": "NM_001379642.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 5451,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000647572.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497953.2",
"strand": false,
"transcript": "ENST00000647572.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9064,
"cdna_start": 5258,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000674664.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501778.2",
"strand": false,
"transcript": "ENST00000674664.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9359,
"cdna_start": 5553,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000674907.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502048.2",
"strand": false,
"transcript": "ENST00000674907.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9204,
"cdna_start": 5398,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000675152.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501849.2",
"strand": false,
"transcript": "ENST00000675152.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "A",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 5301,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000675940.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Ala1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501962.2",
"strand": false,
"transcript": "ENST00000675940.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "A",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 5301,
"cds_end": null,
"cds_length": 5352,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379632.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5143G>A",
"hgvs_p": "p.Ala1715Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366561.1",
"strand": false,
"transcript": "NM_001379632.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "A",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 5298,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001379633.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5140G>A",
"hgvs_p": "p.Ala1714Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366562.1",
"strand": false,
"transcript": "NM_001379633.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "A",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9130,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001379645.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5140G>A",
"hgvs_p": "p.Ala1714Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366574.1",
"strand": false,
"transcript": "NM_001379645.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "A",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5859,
"cdna_start": 5291,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000648129.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5140G>A",
"hgvs_p": "p.Ala1714Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497293.1",
"strand": false,
"transcript": "ENST00000648129.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "A",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5918,
"cdna_start": 5321,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000650130.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5140G>A",
"hgvs_p": "p.Ala1714Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498082.1",
"strand": false,
"transcript": "ENST00000650130.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "A",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5797,
"cdna_start": 5252,
"cds_end": null,
"cds_length": 5313,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000715177.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5140G>A",
"hgvs_p": "p.Ala1714Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520373.1",
"strand": false,
"transcript": "ENST00000715177.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1733,
"aa_ref": "A",
"aa_start": 1665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8957,
"cdna_start": 5151,
"cds_end": null,
"cds_length": 5202,
"cds_start": 4993,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379634.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4993G>A",
"hgvs_p": "p.Ala1665Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366563.1",
"strand": false,
"transcript": "NM_001379634.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1733,
"aa_ref": "A",
"aa_start": 1665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 5144,
"cds_end": null,
"cds_length": 5202,
"cds_start": 4993,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000942883.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4993G>A",
"hgvs_p": "p.Ala1665Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612942.1",
"strand": false,
"transcript": "ENST00000942883.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1732,
"aa_ref": "A",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8980,
"cdna_start": 5174,
"cds_end": null,
"cds_length": 5199,
"cds_start": 4990,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379635.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4990G>A",
"hgvs_p": "p.Ala1664Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366564.1",
"strand": false,
"transcript": "NM_001379635.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1732,
"aa_ref": "A",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8954,
"cdna_start": 5148,
"cds_end": null,
"cds_length": 5199,
"cds_start": 4990,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379646.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4990G>A",
"hgvs_p": "p.Ala1664Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366575.1",
"strand": false,
"transcript": "NM_001379646.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1732,
"aa_ref": "A",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8951,
"cdna_start": 5148,
"cds_end": null,
"cds_length": 5199,
"cds_start": 4990,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000648047.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4990G>A",
"hgvs_p": "p.Ala1664Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497935.2",
"strand": false,
"transcript": "ENST00000648047.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "A",
"aa_start": 1660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8942,
"cdna_start": 5136,
"cds_end": null,
"cds_length": 5187,
"cds_start": 4978,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001379636.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Ala1660Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366565.1",
"strand": false,
"transcript": "NM_001379636.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1728,
"aa_ref": "A",
"aa_start": 1660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": 5136,
"cds_end": null,
"cds_length": 5187,
"cds_start": 4978,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000647885.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Ala1660Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497739.1",
"strand": false,
"transcript": "ENST00000647885.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "A",
"aa_start": 1656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8930,
"cdna_start": 5124,
"cds_end": null,
"cds_length": 5175,
"cds_start": 4966,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001330290.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4966G>A",
"hgvs_p": "p.Ala1656Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317219.1",
"strand": false,
"transcript": "NM_001330290.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "A",
"aa_start": 1656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8930,
"cdna_start": 5124,
"cds_end": null,
"cds_length": 5175,
"cds_start": 4966,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001379648.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4966G>A",
"hgvs_p": "p.Ala1656Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366577.1",
"strand": false,
"transcript": "NM_001379648.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "A",
"aa_start": 1656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 5117,
"cds_end": null,
"cds_length": 5175,
"cds_start": 4966,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000649306.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4966G>A",
"hgvs_p": "p.Ala1656Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497678.1",
"strand": false,
"transcript": "ENST00000649306.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1716,
"aa_ref": "A",
"aa_start": 1648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8906,
"cdna_start": 5100,
"cds_end": null,
"cds_length": 5151,
"cds_start": 4942,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000431776.7",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4942G>A",
"hgvs_p": "p.Ala1648Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414613.3",
"strand": false,
"transcript": "ENST00000431776.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1715,
"aa_ref": "A",
"aa_start": 1647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8903,
"cdna_start": 5097,
"cds_end": null,
"cds_length": 5148,
"cds_start": 4939,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001379637.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4939G>A",
"hgvs_p": "p.Ala1647Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366566.1",
"strand": false,
"transcript": "NM_001379637.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1708,
"aa_ref": "A",
"aa_start": 1640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8882,
"cdna_start": 5076,
"cds_end": null,
"cds_length": 5127,
"cds_start": 4918,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001330289.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4918G>A",
"hgvs_p": "p.Ala1640Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317218.1",
"strand": false,
"transcript": "NM_001330289.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1708,
"aa_ref": "A",
"aa_start": 1640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 5069,
"cds_end": null,
"cds_length": 5127,
"cds_start": 4918,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000648680.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4918G>A",
"hgvs_p": "p.Ala1640Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497586.1",
"strand": false,
"transcript": "ENST00000648680.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1707,
"aa_ref": "A",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8879,
"cdna_start": 5073,
"cds_end": null,
"cds_length": 5124,
"cds_start": 4915,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001379638.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4915G>A",
"hgvs_p": "p.Ala1639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366567.1",
"strand": false,
"transcript": "NM_001379638.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1707,
"aa_ref": "A",
"aa_start": 1639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8881,
"cdna_start": 5076,
"cds_end": null,
"cds_length": 5124,
"cds_start": 4915,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000942882.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4915G>A",
"hgvs_p": "p.Ala1639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612941.1",
"strand": false,
"transcript": "ENST00000942882.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "A",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8855,
"cdna_start": 5049,
"cds_end": null,
"cds_length": 5100,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001320705.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Ala1631Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307634.1",
"strand": false,
"transcript": "NM_001320705.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "A",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8855,
"cdna_start": 5049,
"cds_end": null,
"cds_length": 5100,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001379649.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Ala1631Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366578.1",
"strand": false,
"transcript": "NM_001379649.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "A",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5945,
"cdna_start": 5041,
"cds_end": null,
"cds_length": 5100,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000647731.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Ala1631Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498099.1",
"strand": false,
"transcript": "ENST00000647731.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "A",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7299,
"cdna_start": 5049,
"cds_end": null,
"cds_length": 5100,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000648364.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Ala1631Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498196.1",
"strand": false,
"transcript": "ENST00000648364.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1698,
"aa_ref": "A",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8852,
"cdna_start": 5046,
"cds_end": null,
"cds_length": 5097,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001379639.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Ala1630Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366568.1",
"strand": false,
"transcript": "NM_001379639.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1698,
"aa_ref": "A",
"aa_start": 1630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8785,
"cdna_start": 5046,
"cds_end": null,
"cds_length": 5097,
"cds_start": 4888,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000320389.12",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4888G>A",
"hgvs_p": "p.Ala1630Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322791.8",
"strand": false,
"transcript": "ENST00000320389.12",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8854,
"cdna_start": 5048,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001379650.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366579.1",
"strand": false,
"transcript": "NM_001379650.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8902,
"cdna_start": 5096,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001379651.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366580.1",
"strand": false,
"transcript": "NM_001379651.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8794,
"cdna_start": 4988,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001379653.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366582.1",
"strand": false,
"transcript": "NM_001379653.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8828,
"cdna_start": 5022,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_004321.8",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004312.2",
"strand": false,
"transcript": "NM_004321.8",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8987,
"cdna_start": 5175,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000649096.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497030.1",
"strand": false,
"transcript": "ENST00000649096.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 5034,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000650053.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497824.1",
"strand": false,
"transcript": "ENST00000650053.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1690,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5681,
"cdna_start": 5122,
"cds_end": null,
"cds_length": 5073,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000942881.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612940.1",
"strand": false,
"transcript": "ENST00000942881.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1689,
"aa_ref": "A",
"aa_start": 1621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8825,
"cdna_start": 5019,
"cds_end": null,
"cds_length": 5070,
"cds_start": 4861,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001379640.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4861G>A",
"hgvs_p": "p.Ala1621Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366569.1",
"strand": false,
"transcript": "NM_001379640.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1678,
"aa_ref": "A",
"aa_start": 1622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8792,
"cdna_start": 5022,
"cds_end": null,
"cds_length": 5037,
"cds_start": 4864,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001379641.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Ala1622Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366570.1",
"strand": false,
"transcript": "NM_001379641.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "A",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9233,
"cdna_start": 5427,
"cds_end": null,
"cds_length": 5478,
"cds_start": 5269,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047444818.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5269G>A",
"hgvs_p": "p.Ala1757Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300774.1",
"strand": false,
"transcript": "XM_047444818.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "A",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9259,
"cdna_start": 5453,
"cds_end": null,
"cds_length": 5478,
"cds_start": 5269,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047444819.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5269G>A",
"hgvs_p": "p.Ala1757Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300775.1",
"strand": false,
"transcript": "XM_047444819.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1824,
"aa_ref": "A",
"aa_start": 1756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9230,
"cdna_start": 5424,
"cds_end": null,
"cds_length": 5475,
"cds_start": 5266,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047444820.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5266G>A",
"hgvs_p": "p.Ala1756Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300776.1",
"strand": false,
"transcript": "XM_047444820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "A",
"aa_start": 1732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9158,
"cdna_start": 5352,
"cds_end": null,
"cds_length": 5403,
"cds_start": 5194,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047444821.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.5194G>A",
"hgvs_p": "p.Ala1732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300777.1",
"strand": false,
"transcript": "XM_047444821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 9831,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000488776.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.6024G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000488776.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000649190.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.4161G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649190.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 37,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000650430.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.4239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000650430.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000674793.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.*5117G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501930.1",
"strand": false,
"transcript": "ENST00000674793.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9296,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000675644.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.*454G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502435.2",
"strand": false,
"transcript": "ENST00000675644.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000674793.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.*5117G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501930.1",
"strand": false,
"transcript": "ENST00000674793.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9296,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 50,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000675644.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.*454G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502435.2",
"strand": false,
"transcript": "ENST00000675644.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs879253903",
"effect": "missense_variant",
"frequency_reference_population": 0.0000062022737,
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000479445,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.000019699,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.908,
"pos": 240719053,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.188,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001379631.1"
}
]
}