← 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: 16-57759748-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57759748&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIFC3",
"hgnc_id": 6326,
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001318710.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000276166",
"hgnc_id": null,
"hgvs_c": "n.391C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000613495.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 330,
"alphamissense_prediction": null,
"alphamissense_score": 0.2799,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25395333766937256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001130100.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000445690.7",
"protein_coding": true,
"protein_id": "NP_001123572.1",
"strand": false,
"transcript": "NM_001130100.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000445690.7",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130100.2",
"protein_coding": true,
"protein_id": "ENSP00000401696.2",
"strand": false,
"transcript": "ENST00000445690.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000379655.8",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368976.4",
"strand": false,
"transcript": "ENST00000379655.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2483,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000465878.6",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454659.1",
"strand": false,
"transcript": "ENST00000465878.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 2982,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000562903.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456239.1",
"strand": false,
"transcript": "ENST00000562903.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2824,
"cds_end": null,
"cds_length": 2748,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000950450.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2723G>A",
"hgvs_p": "p.Arg908Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620509.1",
"strand": false,
"transcript": "ENST00000950450.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 905,
"aa_ref": "R",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000950452.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2693G>A",
"hgvs_p": "p.Arg898Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620511.1",
"strand": false,
"transcript": "ENST00000950452.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 2771,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000874184.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2663G>A",
"hgvs_p": "p.Arg888Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544243.1",
"strand": false,
"transcript": "ENST00000874184.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 2856,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000950445.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2663G>A",
"hgvs_p": "p.Arg888Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620504.1",
"strand": false,
"transcript": "ENST00000950445.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2522,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001318710.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305639.1",
"strand": false,
"transcript": "NM_001318710.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 848,
"aa_ref": "R",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 2533,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2522,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000541240.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2522G>A",
"hgvs_p": "p.Arg841Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442008.1",
"strand": false,
"transcript": "ENST00000541240.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_005550.4",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005541.3",
"strand": false,
"transcript": "NM_005550.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874177.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544236.1",
"strand": false,
"transcript": "ENST00000874177.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 2673,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000874178.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544237.1",
"strand": false,
"transcript": "ENST00000874178.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874179.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544238.1",
"strand": false,
"transcript": "ENST00000874179.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3547,
"cdna_start": 2805,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874180.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544239.1",
"strand": false,
"transcript": "ENST00000874180.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3534,
"cdna_start": 2577,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874183.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544242.1",
"strand": false,
"transcript": "ENST00000874183.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2554,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950449.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620508.1",
"strand": false,
"transcript": "ENST00000950449.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 2469,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874182.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2444G>A",
"hgvs_p": "p.Arg815Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544241.1",
"strand": false,
"transcript": "ENST00000874182.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 2523,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2426,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950451.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2426G>A",
"hgvs_p": "p.Arg809Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620510.1",
"strand": false,
"transcript": "ENST00000950451.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 810,
"aa_ref": "R",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": 2516,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2408,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950448.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2408G>A",
"hgvs_p": "p.Arg803Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620507.1",
"strand": false,
"transcript": "ENST00000950448.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950446.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620505.1",
"strand": false,
"transcript": "ENST00000950446.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 781,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5860,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2321,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874181.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544240.1",
"strand": false,
"transcript": "ENST00000874181.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001318711.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2282G>A",
"hgvs_p": "p.Arg761Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305640.1",
"strand": false,
"transcript": "NM_001318711.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000561524.6",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2282G>A",
"hgvs_p": "p.Arg761Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454615.2",
"strand": false,
"transcript": "ENST00000561524.6",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 724,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2175,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001318712.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305641.1",
"strand": false,
"transcript": "NM_001318712.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 724,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 2175,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000540079.6",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438805.2",
"strand": false,
"transcript": "ENST00000540079.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 720,
"aa_ref": "R",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 2163,
"cds_start": 2138,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950447.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2138G>A",
"hgvs_p": "p.Arg713Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620506.1",
"strand": false,
"transcript": "ENST00000950447.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001130099.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123571.1",
"strand": false,
"transcript": "NM_001130099.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001318714.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305643.1",
"strand": false,
"transcript": "NM_001318714.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001318715.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305644.1",
"strand": false,
"transcript": "NM_001318715.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000421376.6",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396399.2",
"strand": false,
"transcript": "ENST00000421376.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 2663,
"cds_end": null,
"cds_length": 2055,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001318713.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305642.1",
"strand": false,
"transcript": "NM_001318713.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2055,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000543930.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444012.1",
"strand": false,
"transcript": "ENST00000543930.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 3045,
"cds_end": null,
"cds_length": 3069,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_006721188.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Arg1008Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721251.1",
"strand": false,
"transcript": "XM_006721188.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 996,
"aa_ref": "R",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2967,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2945,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_005255937.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2945G>A",
"hgvs_p": "p.Arg982Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255994.1",
"strand": false,
"transcript": "XM_005255937.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 2967,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2945,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017023221.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2945G>A",
"hgvs_p": "p.Arg982Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878710.1",
"strand": false,
"transcript": "XM_017023221.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047434078.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290034.1",
"strand": false,
"transcript": "XM_047434078.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 946,
"aa_ref": "R",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2956,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2795,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047434079.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2795G>A",
"hgvs_p": "p.Arg932Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290035.1",
"strand": false,
"transcript": "XM_047434079.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 946,
"aa_ref": "R",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 3051,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2795,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047434080.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2795G>A",
"hgvs_p": "p.Arg932Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290036.1",
"strand": false,
"transcript": "XM_047434080.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 940,
"aa_ref": "R",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 2823,
"cds_start": 2798,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047434081.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290037.1",
"strand": false,
"transcript": "XM_047434081.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 912,
"aa_ref": "R",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017023224.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2693G>A",
"hgvs_p": "p.Arg898Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878713.1",
"strand": false,
"transcript": "XM_017023224.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 912,
"aa_ref": "R",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047434082.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2693G>A",
"hgvs_p": "p.Arg898Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290038.1",
"strand": false,
"transcript": "XM_047434082.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 882,
"aa_ref": "R",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011523075.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2603G>A",
"hgvs_p": "p.Arg868Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521377.1",
"strand": false,
"transcript": "XM_011523075.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011523076.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2603G>A",
"hgvs_p": "p.Arg868Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521378.1",
"strand": false,
"transcript": "XM_011523076.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 861,
"aa_ref": "R",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 2904,
"cds_end": null,
"cds_length": 2586,
"cds_start": 2540,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011523077.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2540G>A",
"hgvs_p": "p.Arg847Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521379.1",
"strand": false,
"transcript": "XM_011523077.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 847,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 2655,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2540,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047434083.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2540G>A",
"hgvs_p": "p.Arg847Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290039.1",
"strand": false,
"transcript": "XM_047434083.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 833,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2712,
"cds_end": null,
"cds_length": 2502,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047434084.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Arg819Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290040.1",
"strand": false,
"transcript": "XM_047434084.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 2490,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2468,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434085.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2468G>A",
"hgvs_p": "p.Arg823Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290041.1",
"strand": false,
"transcript": "XM_047434085.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 788,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2321,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434086.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2321G>A",
"hgvs_p": "p.Arg774Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290042.1",
"strand": false,
"transcript": "XM_047434086.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017023225.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878714.2",
"strand": false,
"transcript": "XM_017023225.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011523078.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521380.1",
"strand": false,
"transcript": "XM_011523078.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011523079.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521381.1",
"strand": false,
"transcript": "XM_011523079.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_024450266.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306034.1",
"strand": false,
"transcript": "XM_024450266.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 2672,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024450267.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306035.1",
"strand": false,
"transcript": "XM_024450267.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_024450268.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306036.1",
"strand": false,
"transcript": "XM_024450268.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3317,
"cdna_start": 2604,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434087.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290043.1",
"strand": false,
"transcript": "XM_047434087.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434088.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290044.1",
"strand": false,
"transcript": "XM_047434088.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 3603,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434089.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290045.1",
"strand": false,
"transcript": "XM_047434089.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047434090.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290046.1",
"strand": false,
"transcript": "XM_047434090.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047434091.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290047.1",
"strand": false,
"transcript": "XM_047434091.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047434092.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290048.1",
"strand": false,
"transcript": "XM_047434092.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 694,
"aa_ref": "R",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047434093.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290049.1",
"strand": false,
"transcript": "XM_047434093.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 195,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 810,
"cdna_start": null,
"cds_end": null,
"cds_length": 588,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565397.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.220-839G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457568.1",
"strand": false,
"transcript": "ENST00000565397.1",
"transcript_support_level": 3
},
{
"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": 3071,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000564136.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "n.*640G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458009.1",
"strand": false,
"transcript": "ENST00000564136.5",
"transcript_support_level": 2
},
{
"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": 473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000565753.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "n.163G>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": "ENST00000565753.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 667,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000613495.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000276166",
"hgvs_c": "n.391C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000613495.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3648,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NR_134678.2",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "n.2935G>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": "NR_134678.2",
"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": 3071,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000564136.5",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "n.*640G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458009.1",
"strand": false,
"transcript": "ENST00000564136.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1081,
"cdna_start": null,
"cds_end": null,
"cds_length": 840,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565270.1",
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"hgvs_c": "c.*5G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457232.1",
"strand": true,
"transcript": "ENST00000565270.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs144481441",
"effect": "missense_variant",
"frequency_reference_population": 0.00020489818,
"gene_hgnc_id": 6326,
"gene_symbol": "KIFC3",
"gnomad_exomes_ac": 319,
"gnomad_exomes_af": 0.000218742,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 11,
"gnomad_genomes_af": 0.0000722638,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.932,
"pos": 57759748,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.295,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001318710.2"
}
]
}