← 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: 9-83889090-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83889090&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF27",
"hgnc_id": 18632,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_017576.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 328508,
"alphamissense_prediction": null,
"alphamissense_score": 0.0625,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002330303192138672,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7257,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_017576.4",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297814.7",
"protein_coding": true,
"protein_id": "NP_060046.1",
"strand": false,
"transcript": "NM_017576.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7257,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000297814.7",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017576.4",
"protein_coding": true,
"protein_id": "ENSP00000297814.2",
"strand": false,
"transcript": "ENST00000297814.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1335,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 4008,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000413982.5",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401688.1",
"strand": false,
"transcript": "ENST00000413982.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4400,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 3915,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000334204.6",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333928.2",
"strand": false,
"transcript": "ENST00000334204.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 4029,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000915947.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586006.1",
"strand": false,
"transcript": "ENST00000915947.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1335,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7059,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 4008,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001271927.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258856.1",
"strand": false,
"transcript": "NM_001271927.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6966,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 3915,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001271928.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258857.1",
"strand": false,
"transcript": "NM_001271928.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 3813,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354069.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340998.1",
"strand": false,
"transcript": "NM_001354069.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 921,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6490,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 2766,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354070.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Gly178Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340999.1",
"strand": false,
"transcript": "NM_001354070.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 849,
"aa_ref": "G",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6189,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2550,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354071.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Gly178Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341000.1",
"strand": false,
"transcript": "NM_001354071.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 286,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 184,
"cds_end": null,
"cds_length": 861,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000376347.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Gly49Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365525.1",
"strand": false,
"transcript": "ENST00000376347.2",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011518848.4",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517150.1",
"strand": false,
"transcript": "XM_011518848.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7442,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011518849.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517151.1",
"strand": false,
"transcript": "XM_011518849.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7719,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011518850.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517152.1",
"strand": false,
"transcript": "XM_011518850.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7590,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017014900.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870389.1",
"strand": false,
"transcript": "XM_017014900.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7522,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017014901.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870390.1",
"strand": false,
"transcript": "XM_017014901.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7826,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017014902.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870391.1",
"strand": false,
"transcript": "XM_017014902.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8040,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047423570.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279526.1",
"strand": false,
"transcript": "XM_047423570.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1427,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7610,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 4284,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047423571.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279527.1",
"strand": false,
"transcript": "XM_047423571.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7962,
"cdna_start": 2827,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014903.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870392.1",
"strand": false,
"transcript": "XM_017014903.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7364,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014904.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870393.1",
"strand": false,
"transcript": "XM_017014904.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7855,
"cdna_start": 2720,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047423572.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279528.1",
"strand": false,
"transcript": "XM_047423572.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7748,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423573.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279529.1",
"strand": false,
"transcript": "XM_047423573.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7405,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423574.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279530.1",
"strand": false,
"transcript": "XM_047423574.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7641,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047423575.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279531.1",
"strand": false,
"transcript": "XM_047423575.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1361,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7842,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 4086,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017014905.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870394.1",
"strand": false,
"transcript": "XM_017014905.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1355,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7824,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 4068,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017014906.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870395.1",
"strand": false,
"transcript": "XM_017014906.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7148,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 3990,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423576.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279532.1",
"strand": false,
"transcript": "XM_047423576.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7073,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 3915,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423577.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279533.1",
"strand": false,
"transcript": "XM_047423577.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7647,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 3891,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011518854.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517156.1",
"strand": false,
"transcript": "XM_011518854.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "G",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6991,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 3828,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017014909.2",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Gly532Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870398.1",
"strand": false,
"transcript": "XM_017014909.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1204,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6773,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 3615,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423578.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279534.1",
"strand": false,
"transcript": "XM_047423578.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "G",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 2905,
"cds_end": null,
"cds_length": 3489,
"cds_start": 2051,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011518856.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Gly684Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517158.1",
"strand": false,
"transcript": "XM_011518856.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "G",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6265,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 3210,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011518857.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.977G>A",
"hgvs_p": "p.Gly326Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517159.1",
"strand": false,
"transcript": "XM_011518857.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 947,
"aa_ref": "G",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5841,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2844,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047423579.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Gly204Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279535.1",
"strand": false,
"transcript": "XM_047423579.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 942,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8345,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2829,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423580.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279536.1",
"strand": false,
"transcript": "XM_047423580.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 895,
"aa_ref": "G",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1973,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017014914.3",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Gly658Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870403.1",
"strand": false,
"transcript": "XM_017014914.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 792,
"aa_ref": "G",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7597,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2379,
"cds_start": 146,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047423582.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "c.146G>A",
"hgvs_p": "p.Gly49Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279538.1",
"strand": false,
"transcript": "XM_047423582.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XR_007061328.1",
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"hgvs_c": "n.2905G>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": "XR_007061328.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs13289566",
"effect": "missense_variant",
"frequency_reference_population": 0.20474473,
"gene_hgnc_id": 18632,
"gene_symbol": "KIF27",
"gnomad_exomes_ac": 296461,
"gnomad_exomes_af": 0.204068,
"gnomad_exomes_homalt": 26923,
"gnomad_genomes_ac": 32047,
"gnomad_genomes_af": 0.211227,
"gnomad_genomes_homalt": 3509,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 30432,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.048,
"pos": 83889090,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.064,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017576.4"
}
]
}