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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: 3-9470661-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9470661&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9470661,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000402198.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2927C>G",
"hgvs_p": "p.Ala976Gly",
"transcript": "NM_001080517.3",
"protein_id": "NP_001073986.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1442,
"cds_start": 2927,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": "ENST00000402198.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2927C>G",
"hgvs_p": "p.Ala976Gly",
"transcript": "ENST00000402198.7",
"protein_id": "ENSP00000385852.2",
"transcript_support_level": 5,
"aa_start": 976,
"aa_end": null,
"aa_length": 1442,
"cds_start": 2927,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": "NM_001080517.3",
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "n.3091C>G",
"hgvs_p": null,
"transcript": "ENST00000493918.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3041C>G",
"hgvs_p": "p.Ala1014Gly",
"transcript": "NM_001437635.1",
"protein_id": "NP_001424564.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1480,
"cds_start": 3041,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 3580,
"cdna_end": null,
"cdna_length": 7037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3023C>G",
"hgvs_p": "p.Ala1008Gly",
"transcript": "NM_001437633.1",
"protein_id": "NP_001424562.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3562,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3023C>G",
"hgvs_p": "p.Ala1008Gly",
"transcript": "ENST00000682536.1",
"protein_id": "ENSP00000507956.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1474,
"cds_start": 3023,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2984C>G",
"hgvs_p": "p.Ala995Gly",
"transcript": "NM_001437643.1",
"protein_id": "NP_001424572.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1461,
"cds_start": 2984,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 4058,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2984C>G",
"hgvs_p": "p.Ala995Gly",
"transcript": "ENST00000407969.5",
"protein_id": "ENSP00000384114.1",
"transcript_support_level": 5,
"aa_start": 995,
"aa_end": null,
"aa_length": 1461,
"cds_start": 2984,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2966C>G",
"hgvs_p": "p.Ala989Gly",
"transcript": "NM_001437701.1",
"protein_id": "NP_001424630.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1455,
"cds_start": 2966,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2927C>G",
"hgvs_p": "p.Ala976Gly",
"transcript": "ENST00000406341.5",
"protein_id": "ENSP00000383939.1",
"transcript_support_level": 5,
"aa_start": 976,
"aa_end": null,
"aa_length": 1442,
"cds_start": 2927,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 3117,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2633C>G",
"hgvs_p": "p.Ala878Gly",
"transcript": "NM_001292043.2",
"protein_id": "NP_001278972.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1344,
"cds_start": 2633,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 7187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2633C>G",
"hgvs_p": "p.Ala878Gly",
"transcript": "NM_001349451.2",
"protein_id": "NP_001336380.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1344,
"cds_start": 2633,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3771,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1928C>G",
"hgvs_p": "p.Ala643Gly",
"transcript": "ENST00000399686.6",
"protein_id": "ENSP00000382593.2",
"transcript_support_level": 5,
"aa_start": 643,
"aa_end": null,
"aa_length": 910,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.917C>G",
"hgvs_p": "p.Ala306Gly",
"transcript": "ENST00000421188.1",
"protein_id": "ENSP00000399993.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 439,
"cds_start": 917,
"cds_end": null,
"cds_length": 1322,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448466.1",
"protein_id": "XP_047304422.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 8172,
"cdna_end": null,
"cdna_length": 11637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448467.1",
"protein_id": "XP_047304423.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 7144,
"cdna_end": null,
"cdna_length": 10609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448468.1",
"protein_id": "XP_047304424.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 9112,
"cdna_end": null,
"cdna_length": 12577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448469.1",
"protein_id": "XP_047304425.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 5035,
"cdna_end": null,
"cdna_length": 8500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448470.1",
"protein_id": "XP_047304426.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 6697,
"cdna_end": null,
"cdna_length": 10162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448471.1",
"protein_id": "XP_047304427.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 7396,
"cdna_end": null,
"cdna_length": 10861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3101C>G",
"hgvs_p": "p.Ala1034Gly",
"transcript": "XM_047448472.1",
"protein_id": "XP_047304428.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3101,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 4810,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.3080C>G",
"hgvs_p": "p.Ala1027Gly",
"transcript": "XM_011533922.2",
"protein_id": "XP_011532224.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1493,
"cds_start": 3080,
"cds_end": null,
"cds_length": 4482,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "n.*3032C>G",
"hgvs_p": null,
"transcript": "ENST00000670063.1",
"protein_id": "ENSP00000499725.1",
"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": 5840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "n.-6C>G",
"hgvs_p": null,
"transcript": "ENST00000486465.5",
"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": 886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"dbsnp": "rs138685269",
"frequency_reference_population": 0.0014913148,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2407,
"gnomad_exomes_af": 0.00155709,
"gnomad_genomes_af": 0.000860099,
"gnomad_exomes_ac": 2276,
"gnomad_genomes_ac": 131,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011110663414001465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.893,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000402198.7",
"gene_symbol": "SETD5",
"hgnc_id": 25566,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2927C>G",
"hgvs_p": "p.Ala976Gly"
}
],
"clinvar_disease": "SETD5-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not provided|SETD5-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}