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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: 3-9906747-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9906747&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9906747,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153483.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "NM_153480.2",
"protein_id": "NP_705613.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 667,
"cds_start": 408,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "ENST00000383814.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153480.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "ENST00000383814.8",
"protein_id": "ENSP00000373325.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 667,
"cds_start": 408,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "NM_153480.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383814.8"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.507T>A",
"hgvs_p": "p.His169Gln",
"transcript": "ENST00000421412.5",
"protein_id": "ENSP00000404916.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 700,
"cds_start": 507,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421412.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.528T>A",
"hgvs_p": "p.His176Gln",
"transcript": "NM_153483.2",
"protein_id": "NP_705616.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 707,
"cds_start": 528,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153483.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.174T>A",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000865435.1",
"protein_id": "ENSP00000535494.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 589,
"cds_start": 174,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865435.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.60T>A",
"hgvs_p": "p.His20Gln",
"transcript": "NM_153481.2",
"protein_id": "NP_705614.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 551,
"cds_start": 60,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153481.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "NM_001193380.2",
"protein_id": "NP_001180309.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 533,
"cds_start": 408,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193380.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "ENST00000454190.6",
"protein_id": "ENSP00000388086.2",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 533,
"cds_start": 408,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454190.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.288T>A",
"hgvs_p": "p.His96Gln",
"transcript": "ENST00000454992.1",
"protein_id": "ENSP00000400768.1",
"transcript_support_level": 4,
"aa_start": 96,
"aa_end": null,
"aa_length": 172,
"cds_start": 288,
"cds_end": null,
"cds_length": 520,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454992.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_047447458.1",
"protein_id": "XP_047303414.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 667,
"cds_start": 408,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447458.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_047447459.1",
"protein_id": "XP_047303415.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 667,
"cds_start": 408,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447459.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.288T>A",
"hgvs_p": "p.His96Gln",
"transcript": "XM_011533361.4",
"protein_id": "XP_011531663.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 627,
"cds_start": 288,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533361.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.60T>A",
"hgvs_p": "p.His20Gln",
"transcript": "XM_006712976.2",
"protein_id": "XP_006713039.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 551,
"cds_start": 60,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712976.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_047447460.1",
"protein_id": "XP_047303416.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 533,
"cds_start": 408,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447460.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_024453350.2",
"protein_id": "XP_024309118.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 506,
"cds_start": 408,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453350.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_011533362.3",
"protein_id": "XP_011531664.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 457,
"cds_start": 408,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533362.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_047447462.1",
"protein_id": "XP_047303418.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 430,
"cds_start": 408,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447462.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_011533363.3",
"protein_id": "XP_011531665.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 410,
"cds_start": 408,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533363.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "c.408T>A",
"hgvs_p": "p.His136Gln",
"transcript": "XM_011533364.3",
"protein_id": "XP_011531666.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 381,
"cds_start": 408,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533364.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.392T>A",
"hgvs_p": null,
"transcript": "ENST00000383815.7",
"protein_id": "ENSP00000373326.3",
"transcript_support_level": 2,
"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": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000383815.7"
},
{
"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": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.272T>A",
"hgvs_p": null,
"transcript": "ENST00000434065.5",
"protein_id": "ENSP00000415701.1",
"transcript_support_level": 2,
"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434065.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.174T>A",
"hgvs_p": null,
"transcript": "ENST00000444427.5",
"protein_id": "ENSP00000406076.1",
"transcript_support_level": 2,
"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": 952,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000444427.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.510T>A",
"hgvs_p": null,
"transcript": "ENST00000489181.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489181.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.477T>A",
"hgvs_p": null,
"transcript": "NR_104198.2",
"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": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104198.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"hgvs_c": "n.475T>A",
"hgvs_p": null,
"transcript": "XR_940382.4",
"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": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_940382.4"
}
],
"gene_symbol": "IL17RE",
"gene_hgnc_id": 18439,
"dbsnp": "rs762108222",
"frequency_reference_population": 0.000009576618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000957662,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08573004603385925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.1313,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.416,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153483.2",
"gene_symbol": "IL17RE",
"hgnc_id": 18439,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.528T>A",
"hgvs_p": "p.His176Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}