← 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: 3-47236070-CC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47236070&ref=CC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF9",
"hgnc_id": 16666,
"hgvs_c": "c.2279_2280delGGinsCA",
"hgvs_p": "p.Arg760Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001413976.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "KIF9-AS1",
"hgnc_id": 26822,
"hgvs_c": "n.440_441delCCinsTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000429315.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2491,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182902.4",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684063.1",
"protein_coding": true,
"protein_id": "NP_878905.2",
"strand": false,
"transcript": "NM_182902.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2491,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684063.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182902.4",
"protein_coding": true,
"protein_id": "ENSP00000507186.1",
"strand": false,
"transcript": "ENST00000684063.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452770.6",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391100.2",
"strand": false,
"transcript": "ENST00000452770.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444589.6",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1985_1986delGGinsCA",
"hgvs_p": "p.Arg662Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414987.2",
"strand": false,
"transcript": "ENST00000444589.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 823,
"aa_ref": "R",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413976.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2279_2280delGGinsCA",
"hgvs_p": "p.Arg760Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400905.1",
"strand": false,
"transcript": "NM_001413976.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413975.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2222_2223delGGinsCA",
"hgvs_p": "p.Arg741Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400904.1",
"strand": false,
"transcript": "NM_001413975.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2737,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001134878.3",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128350.1",
"strand": false,
"transcript": "NM_001134878.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265529.7",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265529.3",
"strand": false,
"transcript": "ENST00000265529.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2825,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888734.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558793.1",
"strand": false,
"transcript": "ENST00000888734.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888735.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558794.1",
"strand": false,
"transcript": "ENST00000888735.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888736.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558795.1",
"strand": false,
"transcript": "ENST00000888736.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888737.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558796.1",
"strand": false,
"transcript": "ENST00000888737.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 769,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2117,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964531.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2117_2118delGGinsCA",
"hgvs_p": "p.Arg706Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634590.1",
"strand": false,
"transcript": "ENST00000964531.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964530.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2003_2004delGGinsCA",
"hgvs_p": "p.Arg668Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634589.1",
"strand": false,
"transcript": "ENST00000964530.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022342.6",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1985_1986delGGinsCA",
"hgvs_p": "p.Arg662Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071737.1",
"strand": false,
"transcript": "NM_022342.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 2651,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964529.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1985_1986delGGinsCA",
"hgvs_p": "p.Arg662Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634588.1",
"strand": false,
"transcript": "ENST00000964529.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 715,
"aa_ref": "R",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1955,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377474.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1955_1956delGGinsCA",
"hgvs_p": "p.Arg652Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364403.1",
"strand": false,
"transcript": "NM_001377474.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377475.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1760_1761delGGinsCA",
"hgvs_p": "p.Arg587Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364404.1",
"strand": false,
"transcript": "NM_001377475.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007029.2",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862518.1",
"strand": false,
"transcript": "XM_017007029.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2180,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448709.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2180_2181delGGinsCA",
"hgvs_p": "p.Arg727Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304665.1",
"strand": false,
"transcript": "XM_047448709.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005265389.5",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2084_2085delGGinsCA",
"hgvs_p": "p.Arg695Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265446.1",
"strand": false,
"transcript": "XM_005265389.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713291.4",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.2054_2055delGGinsCA",
"hgvs_p": "p.Arg685Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713354.1",
"strand": false,
"transcript": "XM_006713291.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448711.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1901_1902delGGinsCA",
"hgvs_p": "p.Arg634Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304667.1",
"strand": false,
"transcript": "XM_047448711.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1859,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448712.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1859_1860delGGinsCA",
"hgvs_p": "p.Arg620Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304668.1",
"strand": false,
"transcript": "XM_047448712.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011534007.3",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.1211_1212delGGinsCA",
"hgvs_p": "p.Arg404Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532309.1",
"strand": false,
"transcript": "XM_011534007.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 758,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": null,
"cds_end": null,
"cds_length": 2277,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448710.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.*19_*20delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304666.1",
"strand": false,
"transcript": "XM_047448710.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": null,
"cds_end": null,
"cds_length": 1704,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047448713.1",
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"hgvs_c": "c.*19_*20delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304669.1",
"strand": false,
"transcript": "XM_047448713.1",
"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": 4898,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000429315.3",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.440_441delCCinsTG",
"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": "ENST00000429315.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1053,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000723160.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.525_526delCCinsTG",
"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": "ENST00000723160.1",
"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": 692,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000723161.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.383_384delCCinsTG",
"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": "ENST00000723161.1",
"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": 523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000723162.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.237_238delCCinsTG",
"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": "ENST00000723162.1",
"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": 1028,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000723164.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.719_720delCCinsTG",
"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": "ENST00000723164.1",
"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": 749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000723165.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.580_581delCCinsTG",
"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": "ENST00000723165.1",
"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": 2540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_033373.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.567_568delCCinsTG",
"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": "NR_033373.1",
"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": 490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000723163.1",
"gene_hgnc_id": 26822,
"gene_symbol": "KIF9-AS1",
"hgvs_c": "n.324-3541_324-3540delCCinsTG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000723163.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16666,
"gene_symbol": "KIF9",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.964,
"pos": 47236070,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001413976.1"
}
]
}