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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: 1-119726897-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119726897&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119726897,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006623.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "NM_006623.4",
"protein_id": "NP_006614.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 533,
"cds_start": 403,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000641023.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006623.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000641023.2",
"protein_id": "ENSP00000493175.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 533,
"cds_start": 403,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006623.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641023.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000369409.9",
"protein_id": "ENSP00000358417.5",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 532,
"cds_start": 403,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369409.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000641597.1",
"protein_id": "ENSP00000493382.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 533,
"cds_start": 403,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641597.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000641947.1",
"protein_id": "ENSP00000492994.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 526,
"cds_start": 403,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641947.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Arg123Gly",
"transcript": "ENST00000858460.1",
"protein_id": "ENSP00000528519.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 521,
"cds_start": 367,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858460.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000641115.1",
"protein_id": "ENSP00000493264.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 445,
"cds_start": 403,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641115.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly",
"transcript": "ENST00000641074.1",
"protein_id": "ENSP00000493446.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 429,
"cds_start": 403,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641074.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.157C>G",
"hgvs_p": "p.Arg53Gly",
"transcript": "ENST00000641811.1",
"protein_id": "ENSP00000493296.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 275,
"cds_start": 157,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641811.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.337C>G",
"hgvs_p": "p.Arg113Gly",
"transcript": "ENST00000641272.1",
"protein_id": "ENSP00000493432.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 238,
"cds_start": 337,
"cds_end": null,
"cds_length": 718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641272.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.118C>G",
"hgvs_p": "p.Arg40Gly",
"transcript": "ENST00000493622.5",
"protein_id": "ENSP00000493433.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 88,
"cds_start": 118,
"cds_end": null,
"cds_length": 268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493622.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.625C>G",
"hgvs_p": "p.Arg209Gly",
"transcript": "XM_011541226.3",
"protein_id": "XP_011539528.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 607,
"cds_start": 625,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541226.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.547C>G",
"hgvs_p": "p.Arg183Gly",
"transcript": "XM_011541227.3",
"protein_id": "XP_011539529.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 581,
"cds_start": 547,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541227.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.514C>G",
"hgvs_p": "p.Arg172Gly",
"transcript": "XM_011541228.3",
"protein_id": "XP_011539530.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 570,
"cds_start": 514,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541228.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.340C>G",
"hgvs_p": "p.Arg114Gly",
"transcript": "XM_047417680.1",
"protein_id": "XP_047273636.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 512,
"cds_start": 340,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417680.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.118C>G",
"hgvs_p": "p.Arg40Gly",
"transcript": "XM_047417682.1",
"protein_id": "XP_047273638.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 438,
"cds_start": 118,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417682.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "XM_047417683.1",
"protein_id": "XP_047273639.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 435,
"cds_start": 109,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417683.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.139-107C>G",
"hgvs_p": null,
"transcript": "ENST00000936419.1",
"protein_id": "ENSP00000606478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936419.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.139-7737C>G",
"hgvs_p": null,
"transcript": "ENST00000936417.1",
"protein_id": "ENSP00000606476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936417.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "c.138+14737C>G",
"hgvs_p": null,
"transcript": "ENST00000936416.1",
"protein_id": "ENSP00000606475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936416.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.1808C>G",
"hgvs_p": null,
"transcript": "ENST00000369407.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000369407.3"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"hgvs_c": "n.486C>G",
"hgvs_p": null,
"transcript": "ENST00000462324.2",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 6,
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"gene_symbol": "PHGDH",
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"hgvs_c": "n.*114C>G",
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"transcript": "ENST00000641587.1",
"protein_id": "ENSP00000493453.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 15,
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"gene_symbol": "PHGDH",
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"hgvs_c": "n.*147C>G",
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"transcript": "ENST00000641756.1",
"protein_id": "ENSP00000493147.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641756.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 14,
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"gene_symbol": "PHGDH",
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"hgvs_c": "n.*229C>G",
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"transcript": "ENST00000641891.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641891.1"
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{
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"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "PHGDH",
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"hgvs_c": "n.*442C>G",
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"transcript": "ENST00000642041.1",
"protein_id": "ENSP00000493415.1",
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"biotype": "nonsense_mediated_decay",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "PHGDH",
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"hgvs_c": "n.-151C>G",
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"transcript": "ENST00000641455.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000641455.1"
}
],
"gene_symbol": "PHGDH",
"gene_hgnc_id": 8923,
"dbsnp": "rs267606949",
"frequency_reference_population": 0.00007931256,
"hom_count_reference_population": 0,
"allele_count_reference_population": 128,
"gnomad_exomes_af": 0.0000827837,
"gnomad_genomes_af": 0.0000459837,
"gnomad_exomes_ac": 121,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8722187280654907,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.703,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.554,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006623.4",
"gene_symbol": "PHGDH",
"hgnc_id": 8923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.403C>G",
"hgvs_p": "p.Arg135Gly"
}
],
"clinvar_disease": "PHGDH deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "PHGDH deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}