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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: 6-137206273-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137206273&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137206273,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367739.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Asn79Ser",
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 489,
"cds_start": 236,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Asn79Ser",
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 489,
"cds_start": 236,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 470,
"cds_start": 179,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Asn60Ser",
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 470,
"cds_start": 179,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Asn38Ser",
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 448,
"cds_start": 113,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Asn38Ser",
"transcript": "ENST00000644894.1",
"protein_id": "ENSP00000495272.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 448,
"cds_start": 113,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Asn38Ser",
"transcript": "ENST00000645753.1",
"protein_id": "ENSP00000495103.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 448,
"cds_start": 113,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Asn38Ser",
"transcript": "ENST00000647124.1",
"protein_id": "ENSP00000496549.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 448,
"cds_start": 113,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Asn38Ser",
"transcript": "ENST00000696693.1",
"protein_id": "ENSP00000512814.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 448,
"cds_start": 113,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.182A>G",
"hgvs_p": "p.Asn61Ser",
"transcript": "ENST00000696697.1",
"protein_id": "ENSP00000512818.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 436,
"cds_start": 182,
"cds_end": null,
"cds_length": 1313,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Asn79Ser",
"transcript": "ENST00000696695.1",
"protein_id": "ENSP00000512816.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 435,
"cds_start": 236,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Asn79Ser",
"transcript": "ENST00000696694.1",
"protein_id": "ENSP00000512815.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 257,
"cds_start": 236,
"cds_end": null,
"cds_length": 774,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Asn51Ser",
"transcript": "ENST00000696699.1",
"protein_id": "ENSP00000512820.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 167,
"cds_start": 152,
"cds_end": null,
"cds_length": 505,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "XM_006715470.4",
"protein_id": "XP_006715533.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "XM_011535793.3",
"protein_id": "XP_011534095.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "XM_011535794.2",
"protein_id": "XP_011534096.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asn69Ser",
"transcript": "XM_047418726.1",
"protein_id": "XP_047274682.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 479,
"cds_start": 206,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 535,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*263A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "n.*135A>G",
"hgvs_p": null,
"transcript": "ENST00000696696.1",
"protein_id": "ENSP00000512817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
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},
{
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"transcript": "ENST00000643119.1",
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},
{
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"gene_symbol": "IFNGR1",
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"transcript": "ENST00000696696.1",
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.201-67A>G",
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"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
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}
],
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"dbsnp": "rs377227464",
"frequency_reference_population": 0.00014533421,
"hom_count_reference_population": 1,
"allele_count_reference_population": 234,
"gnomad_exomes_af": 0.000133768,
"gnomad_genomes_af": 0.000256013,
"gnomad_exomes_ac": 195,
"gnomad_genomes_ac": 39,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.112102210521698,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.84,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367739.9",
"gene_symbol": "IFNGR1",
"hgnc_id": 5439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.236A>G",
"hgvs_p": "p.Asn79Ser"
}
],
"clinvar_disease": "Disseminated atypical mycobacterial infection,Immunodeficiency 27A",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Immunodeficiency 27A|Disseminated atypical mycobacterial infection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}