← 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: 21-33243682-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33243682&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33243682,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001289125.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_001289125.3",
"protein_id": "NP_001276054.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 515,
"cds_start": 65,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": "ENST00000342136.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "ENST00000342136.9",
"protein_id": "ENSP00000343957.5",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 515,
"cds_start": 65,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": "NM_001289125.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "ENST00000433395.7",
"protein_id": "ENSP00000388223.3",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 545,
"cds_start": 65,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "ENST00000382264.7",
"protein_id": "ENSP00000371699.3",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 331,
"cds_start": 65,
"cds_end": null,
"cds_length": 996,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "ENST00000404220.7",
"protein_id": "ENSP00000384309.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 331,
"cds_start": 65,
"cds_end": null,
"cds_length": 996,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "ENST00000342101.7",
"protein_id": "ENSP00000343289.3",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 239,
"cds_start": 65,
"cds_end": null,
"cds_length": 720,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_001414505.1",
"protein_id": "NP_001401434.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 545,
"cds_start": 65,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_207585.3",
"protein_id": "NP_997468.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 515,
"cds_start": 65,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "ENST00000683941.1",
"protein_id": "ENSP00000508013.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 515,
"cds_start": 65,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_001385055.1",
"protein_id": "NP_001371984.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 451,
"cds_start": 65,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_000874.5",
"protein_id": "NP_000865.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 331,
"cds_start": 65,
"cds_end": null,
"cds_length": 996,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_207584.3",
"protein_id": "NP_997467.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 331,
"cds_start": 65,
"cds_end": null,
"cds_length": 996,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_001385054.1",
"protein_id": "NP_001371983.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 241,
"cds_start": 65,
"cds_end": null,
"cds_length": 726,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_001289126.2",
"protein_id": "NP_001276055.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 239,
"cds_start": 65,
"cds_end": null,
"cds_length": 720,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile",
"transcript": "NM_001289128.2",
"protein_id": "NP_001276057.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 239,
"cds_start": 65,
"cds_end": null,
"cds_length": 720,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Ser46Ile",
"transcript": "ENST00000447980.1",
"protein_id": "ENSP00000402311.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 203,
"cds_start": 137,
"cds_end": null,
"cds_length": 612,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "n.65G>T",
"hgvs_p": null,
"transcript": "ENST00000382238.6",
"protein_id": "ENSP00000371673.2",
"transcript_support_level": 3,
"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": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "n.337G>T",
"hgvs_p": null,
"transcript": "ENST00000420068.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.65G>T",
"hgvs_p": null,
"transcript": "ENST00000646150.1",
"protein_id": "ENSP00000496248.1",
"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": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.65G>T",
"hgvs_p": null,
"transcript": "ENST00000682009.1",
"protein_id": "ENSP00000506919.1",
"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": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.65G>T",
"hgvs_p": null,
"transcript": "ENST00000683116.1",
"protein_id": "ENSP00000508125.1",
"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": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "n.275G>T",
"hgvs_p": null,
"transcript": "ENST00000700427.1",
"protein_id": null,
"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": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "n.299G>T",
"hgvs_p": null,
"transcript": "ENST00000700429.1",
"protein_id": null,
"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": 9035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.-119-1269G>T",
"hgvs_p": null,
"transcript": "ENST00000443073.5",
"protein_id": "ENSP00000403569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.-119-1269G>T",
"hgvs_p": null,
"transcript": "ENST00000413881.5",
"protein_id": "ENSP00000413160.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"dbsnp": "rs143742626",
"frequency_reference_population": 0.000022932112,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000136875,
"gnomad_genomes_af": 0.000111639,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07480412721633911,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.362,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.546,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001289125.3",
"gene_symbol": "IFNAR2",
"hgnc_id": 5433,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000433395.7",
"gene_symbol": "IFNAR2-IL10RB",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Ser22Ile"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}