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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: 3-43347827-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43347827&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 43347827,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017719.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "NM_017719.5",
"protein_id": "NP_060189.3",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": "ENST00000296088.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017719.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000296088.12",
"protein_id": "ENSP00000296088.7",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": "NM_017719.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296088.12"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000429705.6",
"protein_id": "ENSP00000411375.2",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429705.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "NM_001100594.2",
"protein_id": "NP_001094064.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100594.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000454177.5",
"protein_id": "ENSP00000401246.1",
"transcript_support_level": 2,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454177.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000852137.1",
"protein_id": "ENSP00000522196.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852137.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000852138.1",
"protein_id": "ENSP00000522197.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852138.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000852139.1",
"protein_id": "ENSP00000522198.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852139.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000852140.1",
"protein_id": "ENSP00000522199.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852140.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000852142.1",
"protein_id": "ENSP00000522201.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852142.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000852143.1",
"protein_id": "ENSP00000522202.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 6904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852143.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "ENST00000954396.1",
"protein_id": "ENSP00000624455.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954396.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1460A>C",
"hgvs_p": "p.His487Pro",
"transcript": "ENST00000852144.1",
"protein_id": "ENSP00000522203.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 729,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852144.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1355A>C",
"hgvs_p": "p.His452Pro",
"transcript": "ENST00000852141.1",
"protein_id": "ENSP00000522200.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 694,
"cds_start": 1355,
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"cds_length": 2085,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852141.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1355A>C",
"hgvs_p": "p.His452Pro",
"transcript": "ENST00000954397.1",
"protein_id": "ENSP00000624456.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 694,
"cds_start": 1355,
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"cds_length": 2085,
"cdna_start": 1558,
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"cdna_length": 4871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954397.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.950A>C",
"hgvs_p": "p.His317Pro",
"transcript": "NM_001330750.2",
"protein_id": "NP_001317679.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 559,
"cds_start": 950,
"cds_end": null,
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"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330750.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.950A>C",
"hgvs_p": "p.His317Pro",
"transcript": "ENST00000437827.1",
"protein_id": "ENSP00000409516.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 559,
"cds_start": 950,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437827.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "XM_005265245.4",
"protein_id": "XP_005265302.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
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"cdna_start": 1922,
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"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265245.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "XM_047448396.1",
"protein_id": "XP_047304352.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
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"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448396.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "XM_047448397.1",
"protein_id": "XP_047304353.1",
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"aa_end": null,
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"cdna_start": 1777,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448397.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro",
"transcript": "XM_047448398.1",
"protein_id": "XP_047304354.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 765,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448398.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK-AS1",
"gene_hgnc_id": 41269,
"hgvs_c": "n.1086T>G",
"hgvs_p": null,
"transcript": "ENST00000607513.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000607513.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK-AS1",
"gene_hgnc_id": 41269,
"hgvs_c": "n.2567T>G",
"hgvs_p": null,
"transcript": "NR_046757.1",
"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": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "n.128+4349A>C",
"hgvs_p": null,
"transcript": "ENST00000468628.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468628.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"hgvs_c": "n.*221A>C",
"hgvs_p": null,
"transcript": "ENST00000481892.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481892.1"
}
],
"gene_symbol": "SNRK",
"gene_hgnc_id": 30598,
"dbsnp": "rs1391671220",
"frequency_reference_population": 0.00000681518,
"hom_count_reference_population": 1,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000410428,
"gnomad_genomes_af": 0.0000328614,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15521231293678284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.0592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.189,
"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": -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_017719.5",
"gene_symbol": "SNRK",
"hgnc_id": 30598,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1568A>C",
"hgvs_p": "p.His523Pro"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_046757.1",
"gene_symbol": "SNRK-AS1",
"hgnc_id": 41269,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2567T>G",
"hgvs_p": null
}
],
"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
}