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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: 16-10907940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10907940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10907940,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001286402.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"transcript": "NM_000246.4",
"protein_id": "NP_000237.2",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324288.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000246.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"transcript": "ENST00000324288.14",
"protein_id": "ENSP00000316328.8",
"transcript_support_level": 1,
"aa_start": 816,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000246.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324288.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.860-1043C>T",
"hgvs_p": null,
"transcript": "ENST00000381835.9",
"protein_id": "ENSP00000371257.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": null,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381835.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.2419C>T",
"hgvs_p": null,
"transcript": "ENST00000573309.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000573309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.1007-2248C>T",
"hgvs_p": null,
"transcript": "ENST00000537380.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000537380.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2451C>T",
"hgvs_p": "p.Ala817Ala",
"transcript": "ENST00000886127.1",
"protein_id": "ENSP00000556186.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2451,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886127.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2451C>T",
"hgvs_p": "p.Ala817Ala",
"transcript": "NM_001286402.1",
"protein_id": "NP_001273331.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2451,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286402.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2451C>T",
"hgvs_p": "p.Ala817Ala",
"transcript": "NM_001379332.1",
"protein_id": "NP_001366261.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2451,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379332.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2451C>T",
"hgvs_p": "p.Ala817Ala",
"transcript": "ENST00000618327.4",
"protein_id": "ENSP00000485010.1",
"transcript_support_level": 2,
"aa_start": 817,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2451,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618327.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"transcript": "NM_001379333.1",
"protein_id": "NP_001366262.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379333.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"transcript": "ENST00000886125.1",
"protein_id": "ENSP00000556184.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886125.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"transcript": "ENST00000886126.1",
"protein_id": "ENSP00000556185.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886126.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.Ala793Ala",
"transcript": "NM_001379334.1",
"protein_id": "NP_001366263.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2379,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379334.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"transcript": "ENST00000886128.1",
"protein_id": "ENSP00000556187.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2448,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886128.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2304C>T",
"hgvs_p": "p.Ala768Ala",
"transcript": "NM_001379330.1",
"protein_id": "NP_001366259.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2304,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379330.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2304C>T",
"hgvs_p": "p.Ala768Ala",
"transcript": "ENST00000886124.1",
"protein_id": "ENSP00000556183.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2304,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886124.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2304C>T",
"hgvs_p": "p.Ala768Ala",
"transcript": "ENST00000969830.1",
"protein_id": "ENSP00000639889.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2304,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969830.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Ala767Ala",
"transcript": "NM_001379331.1",
"protein_id": "NP_001366260.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2301,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379331.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.1959C>T",
"hgvs_p": "p.Ala653Ala",
"transcript": "ENST00000886129.1",
"protein_id": "ENSP00000556188.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 967,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886129.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2745C>T",
"hgvs_p": "p.Ala915Ala",
"transcript": "XM_006720880.4",
"protein_id": "XP_006720943.2",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720880.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2745C>T",
"hgvs_p": "p.Ala915Ala",
"transcript": "XM_011522484.4",
"protein_id": "XP_011520786.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522484.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "c.2745C>T",
"hgvs_p": "p.Ala915Ala",
"transcript": "XM_011522485.3",
"protein_id": "XP_011520787.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2745,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522485.3"
},
{
"aa_ref": "A",
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.1007-2248C>T",
"hgvs_p": null,
"transcript": "ENST00000618207.4",
"protein_id": "ENSP00000484761.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000618207.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308110",
"gene_hgnc_id": null,
"hgvs_c": "n.78-8302G>A",
"hgvs_p": null,
"transcript": "ENST00000831791.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000831791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"hgvs_c": "n.1136-2248C>T",
"hgvs_p": null,
"transcript": "NR_104444.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104444.2"
}
],
"gene_symbol": "CIITA",
"gene_hgnc_id": 7067,
"dbsnp": "rs112250421",
"frequency_reference_population": 0.004324509,
"hom_count_reference_population": 24,
"allele_count_reference_population": 6759,
"gnomad_exomes_af": 0.0045087,
"gnomad_genomes_af": 0.00261904,
"gnomad_exomes_ac": 6360,
"gnomad_genomes_ac": 399,
"gnomad_exomes_homalt": 21,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.009,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001286402.1",
"gene_symbol": "CIITA",
"hgnc_id": 7067,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2451C>T",
"hgvs_p": "p.Ala817Ala"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000831791.1",
"gene_symbol": "ENSG00000308110",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.78-8302G>A",
"hgvs_p": null
}
],
"clinvar_disease": "MHC class II deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "MHC class II deficiency|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}