← 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: 17-5020036-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5020036&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5020036,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006612.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "NM_006612.6",
"protein_id": "NP_006603.2",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 7917,
"mane_select": "ENST00000320785.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006612.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000320785.10",
"protein_id": "ENSP00000320821.5",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 7917,
"mane_select": "NM_006612.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320785.10"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Tyr579Tyr",
"transcript": "ENST00000948910.1",
"protein_id": "ENSP00000618969.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1737,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948910.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.Tyr579Tyr",
"transcript": "ENST00000948913.1",
"protein_id": "ENSP00000618972.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1737,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948913.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Tyr571Tyr",
"transcript": "ENST00000894742.1",
"protein_id": "ENSP00000564801.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1713,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894742.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Tyr571Tyr",
"transcript": "ENST00000948919.1",
"protein_id": "ENSP00000618978.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1713,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2004,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948919.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894736.1",
"protein_id": "ENSP00000564795.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894736.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894737.1",
"protein_id": "ENSP00000564796.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 4368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894737.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894738.1",
"protein_id": "ENSP00000564797.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894738.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894741.1",
"protein_id": "ENSP00000564800.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 4290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894741.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894743.1",
"protein_id": "ENSP00000564802.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894743.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894746.1",
"protein_id": "ENSP00000564805.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894746.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894747.1",
"protein_id": "ENSP00000564806.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894747.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000894748.1",
"protein_id": "ENSP00000564807.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894748.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000919364.1",
"protein_id": "ENSP00000589423.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919364.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000919365.1",
"protein_id": "ENSP00000589424.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919365.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000919366.1",
"protein_id": "ENSP00000589425.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919366.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000948912.1",
"protein_id": "ENSP00000618971.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948912.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000948914.1",
"protein_id": "ENSP00000618973.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948914.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000948915.1",
"protein_id": "ENSP00000618974.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948915.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000948916.1",
"protein_id": "ENSP00000618975.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948916.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000948917.1",
"protein_id": "ENSP00000618976.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948917.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "ENST00000948918.1",
"protein_id": "ENSP00000618977.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948918.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1704T>C",
"hgvs_p": "p.Tyr568Tyr",
"transcript": "ENST00000894745.1",
"protein_id": "ENSP00000564804.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1704,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894745.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1701T>C",
"hgvs_p": "p.Tyr567Tyr",
"transcript": "ENST00000894739.1",
"protein_id": "ENSP00000564798.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1701,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894739.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1698T>C",
"hgvs_p": "p.Tyr566Tyr",
"transcript": "ENST00000948909.1",
"protein_id": "ENSP00000618968.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1698,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948909.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1674T>C",
"hgvs_p": "p.Tyr558Tyr",
"transcript": "ENST00000894740.1",
"protein_id": "ENSP00000564799.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1674,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894740.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1671T>C",
"hgvs_p": "p.Tyr557Tyr",
"transcript": "ENST00000894750.1",
"protein_id": "ENSP00000564809.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1671,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894750.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1671T>C",
"hgvs_p": "p.Tyr557Tyr",
"transcript": "ENST00000948911.1",
"protein_id": "ENSP00000618970.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1671,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948911.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1641T>C",
"hgvs_p": "p.Tyr547Tyr",
"transcript": "ENST00000894744.1",
"protein_id": "ENSP00000564803.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1641,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894744.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1641T>C",
"hgvs_p": "p.Tyr547Tyr",
"transcript": "ENST00000894749.1",
"protein_id": "ENSP00000564808.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 1081,
"cds_start": 1641,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894749.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr",
"transcript": "XM_005256424.3",
"protein_id": "XP_005256481.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1103,
"cds_start": 1707,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256424.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C-AS1",
"gene_hgnc_id": 40324,
"hgvs_c": "n.496A>G",
"hgvs_p": null,
"transcript": "ENST00000438266.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000438266.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"hgvs_c": "n.249T>C",
"hgvs_p": null,
"transcript": "ENST00000573815.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1C-AS1",
"gene_hgnc_id": 40324,
"hgvs_c": "n.58A>G",
"hgvs_p": null,
"transcript": "NR_120665.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120665.2"
}
],
"gene_symbol": "KIF1C",
"gene_hgnc_id": 6317,
"dbsnp": "rs537026503",
"frequency_reference_population": 0.000021802154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000165158,
"gnomad_genomes_af": 0.0000722771,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.521,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_006612.6",
"gene_symbol": "KIF1C",
"hgnc_id": 6317,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1707T>C",
"hgvs_p": "p.Tyr569Tyr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000438266.2",
"gene_symbol": "KIF1C-AS1",
"hgnc_id": 40324,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.496A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Spastic ataxia 2",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Spastic ataxia 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}