← 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: 6-137206981-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137206981&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137206981,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367739.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.182T>A",
"hgvs_p": "p.Val61Glu",
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 489,
"cds_start": 182,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.182T>A",
"hgvs_p": "p.Val61Glu",
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 489,
"cds_start": 182,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.125T>A",
"hgvs_p": "p.Val42Glu",
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 470,
"cds_start": 125,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.125T>A",
"hgvs_p": "p.Val42Glu",
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 470,
"cds_start": 125,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.182T>A",
"hgvs_p": "p.Val61Glu",
"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 455,
"cds_start": 182,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.59T>A",
"hgvs_p": "p.Val20Glu",
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 448,
"cds_start": 59,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.59T>A",
"hgvs_p": "p.Val20Glu",
"transcript": "ENST00000644894.1",
"protein_id": "ENSP00000495272.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 448,
"cds_start": 59,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.59T>A",
"hgvs_p": "p.Val20Glu",
"transcript": "ENST00000645753.1",
"protein_id": "ENSP00000495103.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 448,
"cds_start": 59,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.59T>A",
"hgvs_p": "p.Val20Glu",
"transcript": "ENST00000647124.1",
"protein_id": "ENSP00000496549.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 448,
"cds_start": 59,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.59T>A",
"hgvs_p": "p.Val20Glu",
"transcript": "ENST00000696693.1",
"protein_id": "ENSP00000512814.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 448,
"cds_start": 59,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 130,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.128T>A",
"hgvs_p": "p.Val43Glu",
"transcript": "ENST00000696697.1",
"protein_id": "ENSP00000512818.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 436,
"cds_start": 128,
"cds_end": null,
"cds_length": 1313,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.182T>A",
"hgvs_p": "p.Val61Glu",
"transcript": "ENST00000696695.1",
"protein_id": "ENSP00000512816.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 435,
"cds_start": 182,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.182T>A",
"hgvs_p": "p.Val61Glu",
"transcript": "ENST00000696694.1",
"protein_id": "ENSP00000512815.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 257,
"cds_start": 182,
"cds_end": null,
"cds_length": 774,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.98T>A",
"hgvs_p": "p.Val33Glu",
"transcript": "ENST00000696699.1",
"protein_id": "ENSP00000512820.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 167,
"cds_start": 98,
"cds_end": null,
"cds_length": 505,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "XM_006715470.4",
"protein_id": "XP_006715533.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "XM_011535793.3",
"protein_id": "XP_011534095.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "XM_011535794.2",
"protein_id": "XP_011534096.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152T>A",
"hgvs_p": "p.Val51Glu",
"transcript": "XM_047418726.1",
"protein_id": "XP_047274682.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 479,
"cds_start": 152,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.304T>A",
"hgvs_p": null,
"transcript": "ENST00000478333.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*209T>A",
"hgvs_p": null,
"transcript": "ENST00000643119.1",
"protein_id": "ENSP00000495934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*81T>A",
"hgvs_p": null,
"transcript": "ENST00000696696.1",
"protein_id": "ENSP00000512817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.182T>A",
"hgvs_p": null,
"transcript": "ENST00000696698.1",
"protein_id": "ENSP00000512819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*209T>A",
"hgvs_p": null,
"transcript": "ENST00000643119.1",
"protein_id": "ENSP00000495934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*81T>A",
"hgvs_p": null,
"transcript": "ENST00000696696.1",
"protein_id": "ENSP00000512817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"dbsnp": "rs121912715",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9871737360954285,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.087,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000367739.9",
"gene_symbol": "IFNGR1",
"hgnc_id": 5439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.182T>A",
"hgvs_p": "p.Val61Glu"
}
],
"clinvar_disease": "Immunodeficiency 27A",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency 27A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}