← 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: 16-10915605-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10915605&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CIITA",
"hgnc_id": 7067,
"hgvs_c": "c.2927A>C",
"hgvs_p": "p.Lys976Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001286402.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000308110",
"hgnc_id": null,
"hgvs_c": "n.77+2860T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000831791.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1129,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12276014685630798,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16061,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000246.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324288.14",
"protein_coding": true,
"protein_id": "NP_000237.2",
"strand": true,
"transcript": "NM_000246.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16061,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000324288.14",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000246.4",
"protein_coding": true,
"protein_id": "ENSP00000316328.8",
"strand": true,
"transcript": "ENST00000324288.14",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 546,
"aa_ref": "K",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000381835.9",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Lys391Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371257.5",
"strand": true,
"transcript": "ENST00000381835.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "K",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2927,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886127.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2927A>C",
"hgvs_p": "p.Lys976Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556186.1",
"strand": true,
"transcript": "ENST00000886127.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "K",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2927,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001286402.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2927A>C",
"hgvs_p": "p.Lys976Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273331.1",
"strand": true,
"transcript": "NM_001286402.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "K",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4826,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2927,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001379332.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2927A>C",
"hgvs_p": "p.Lys976Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366261.1",
"strand": true,
"transcript": "NM_001379332.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "K",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2927,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000618327.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2927A>C",
"hgvs_p": "p.Lys976Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485010.1",
"strand": true,
"transcript": "ENST00000618327.4",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4823,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001379333.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366262.1",
"strand": true,
"transcript": "NM_001379333.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 3029,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886125.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556184.1",
"strand": true,
"transcript": "ENST00000886125.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5084,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886126.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556185.1",
"strand": true,
"transcript": "ENST00000886126.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "K",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4721,
"cdna_start": 2951,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001379334.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2855A>C",
"hgvs_p": "p.Lys952Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366263.1",
"strand": true,
"transcript": "NM_001379334.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1099,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 3300,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886128.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556187.1",
"strand": true,
"transcript": "ENST00000886128.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "K",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": 2909,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001379330.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2780A>C",
"hgvs_p": "p.Lys927Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366259.1",
"strand": true,
"transcript": "NM_001379330.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "K",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886124.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2780A>C",
"hgvs_p": "p.Lys927Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556183.1",
"strand": true,
"transcript": "ENST00000886124.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "K",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4295,
"cdna_start": 2822,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969830.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2780A>C",
"hgvs_p": "p.Lys927Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639889.1",
"strand": true,
"transcript": "ENST00000969830.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "K",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 2906,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001379331.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2777A>C",
"hgvs_p": "p.Lys926Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366260.1",
"strand": true,
"transcript": "NM_001379331.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 967,
"aa_ref": "K",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2526,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886129.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2435A>C",
"hgvs_p": "p.Lys812Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556188.1",
"strand": true,
"transcript": "ENST00000886129.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 546,
"aa_ref": "K",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14309,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001286403.2",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Lys391Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273332.1",
"strand": true,
"transcript": "NM_001286403.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "K",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_006720880.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3221A>C",
"hgvs_p": "p.Lys1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720943.2",
"strand": true,
"transcript": "XM_006720880.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "K",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16250,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011522484.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3221A>C",
"hgvs_p": "p.Lys1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520786.1",
"strand": true,
"transcript": "XM_011522484.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "K",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5569,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011522485.3",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3221A>C",
"hgvs_p": "p.Lys1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520787.1",
"strand": true,
"transcript": "XM_011522485.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "K",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011522486.3",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3221A>C",
"hgvs_p": "p.Lys1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520788.1",
"strand": true,
"transcript": "XM_011522486.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "K",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011522491.3",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3221A>C",
"hgvs_p": "p.Lys1074Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520793.1",
"strand": true,
"transcript": "XM_011522491.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "K",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 3396,
"cds_start": 2927,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434120.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2927A>C",
"hgvs_p": "p.Lys976Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290076.1",
"strand": true,
"transcript": "XM_047434120.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "K",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 3057,
"cds_end": null,
"cds_length": 3393,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434122.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2924A>C",
"hgvs_p": "p.Lys975Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290078.1",
"strand": true,
"transcript": "XM_047434122.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "K",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15959,
"cdna_start": 2951,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434116.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2855A>C",
"hgvs_p": "p.Lys952Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290072.1",
"strand": true,
"transcript": "XM_047434116.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "K",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5278,
"cdna_start": 2951,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434117.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2855A>C",
"hgvs_p": "p.Lys952Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290073.1",
"strand": true,
"transcript": "XM_047434117.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "K",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15997,
"cdna_start": 2989,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434123.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2855A>C",
"hgvs_p": "p.Lys952Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290079.1",
"strand": true,
"transcript": "XM_047434123.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "K",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 2948,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2852,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011522490.3",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2852A>C",
"hgvs_p": "p.Lys951Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520792.2",
"strand": true,
"transcript": "XM_011522490.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "K",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 3115,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2852,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434114.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2852A>C",
"hgvs_p": "p.Lys951Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290070.1",
"strand": true,
"transcript": "XM_047434114.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "K",
"aa_start": 951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15956,
"cdna_start": 2948,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2852,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047434119.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2852A>C",
"hgvs_p": "p.Lys951Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290075.1",
"strand": true,
"transcript": "XM_047434119.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "K",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15921,
"cdna_start": 2913,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2780,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434126.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2780A>C",
"hgvs_p": "p.Lys927Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290082.1",
"strand": true,
"transcript": "XM_047434126.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "K",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15918,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434127.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2777A>C",
"hgvs_p": "p.Lys926Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290083.1",
"strand": true,
"transcript": "XM_047434127.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1081,
"aa_ref": "K",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 3246,
"cds_start": 2777,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434128.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2777A>C",
"hgvs_p": "p.Lys926Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290084.1",
"strand": true,
"transcript": "XM_047434128.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15980,
"cdna_start": 2972,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2708,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434115.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2708A>C",
"hgvs_p": "p.Lys903Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290071.1",
"strand": true,
"transcript": "XM_047434115.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15812,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2708,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434124.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2708A>C",
"hgvs_p": "p.Lys903Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290080.1",
"strand": true,
"transcript": "XM_047434124.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "K",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2708,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434125.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2708A>C",
"hgvs_p": "p.Lys903Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290081.1",
"strand": true,
"transcript": "XM_047434125.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "K",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15977,
"cdna_start": 2969,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2705,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434118.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2705A>C",
"hgvs_p": "p.Lys902Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290074.1",
"strand": true,
"transcript": "XM_047434118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5342,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000570546.5",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.3924A>C",
"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": "ENST00000570546.5",
"transcript_support_level": 2
},
{
"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": 2844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000618207.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.*52A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000484761.1",
"strand": true,
"transcript": "ENST00000618207.4",
"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": 14251,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_104444.2",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.1243A>C",
"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_104444.2",
"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": 3513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XR_001751904.2",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.3288A>C",
"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": "XR_001751904.2",
"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": 5013,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XR_007064879.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.2948A>C",
"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": "XR_007064879.1",
"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": 5469,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XR_007064880.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.3057A>C",
"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": "XR_007064880.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000618207.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.*52A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000484761.1",
"strand": true,
"transcript": "ENST00000618207.4",
"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": 791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000831791.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000308110",
"hgvs_c": "n.77+2860T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000831791.1",
"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": 560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572665.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "n.-41A>C",
"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": "ENST00000572665.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140103491",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020521857,
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205219,
"gnomad_exomes_homalt": 0,
"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": 0.258,
"pos": 10915605,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.061,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001286402.1"
}
]
}