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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: X-18733794-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18733794&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18733794,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001377996.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001377996.1",
"protein_id": "NP_001364925.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "ENST00000470157.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000470157.2",
"protein_id": "ENSP00000419273.2",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "NM_001377996.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000361511.9",
"protein_id": "ENSP00000354871.3",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001377986.2",
"protein_id": "NP_001364915.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001377993.1",
"protein_id": "NP_001364922.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001378381.1",
"protein_id": "NP_001365310.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001389620.1",
"protein_id": "NP_001376549.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001389621.1",
"protein_id": "NP_001376550.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_006240.4",
"protein_id": "NP_006231.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000471570.6",
"protein_id": "ENSP00000509623.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000689646.1",
"protein_id": "ENSP00000509616.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000692488.1",
"protein_id": "ENSP00000510505.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 653,
"cds_start": 221,
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"cds_length": 1962,
"cdna_start": 867,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000472826.6",
"protein_id": "ENSP00000419948.2",
"transcript_support_level": 4,
"aa_start": 74,
"aa_end": null,
"aa_length": 634,
"cds_start": 221,
"cds_end": null,
"cds_length": 1907,
"cdna_start": 794,
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"cdna_length": 2480,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_152224.2",
"protein_id": "NP_689410.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001389623.1",
"protein_id": "NP_001376552.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 591,
"cds_start": 221,
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"cdna_start": 714,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_152226.2",
"protein_id": "NP_689412.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "ENST00000349874.10",
"protein_id": "ENSP00000341892.5",
"transcript_support_level": 5,
"aa_start": 74,
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"aa_length": 591,
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"cdna_start": 343,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.26A>G",
"hgvs_p": "p.His9Arg",
"transcript": "NM_001377994.1",
"protein_id": "NP_001364923.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 588,
"cds_start": 26,
"cds_end": null,
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"cdna_start": 229,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "NM_001378382.1",
"protein_id": "NP_001365311.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 8,
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"intron_rank": null,
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"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "XM_047442192.1",
"protein_id": "XP_047298148.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 8,
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"intron_rank": null,
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"gene_symbol": "PPEF1",
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"transcript": "XM_047442193.1",
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "XM_047442194.1",
"protein_id": "XP_047298150.1",
"transcript_support_level": null,
"aa_start": 74,
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"cdna_start": 3078,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg",
"transcript": "XM_047442195.1",
"protein_id": "XP_047298151.1",
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},
{
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"consequences": [
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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],
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},
{
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"intron_variant"
],
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"gene_symbol": "PPEF1",
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"transcript": "XM_017029612.2",
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}
],
"gene_symbol": "PPEF1",
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"dbsnp": null,
"frequency_reference_population": 0.000001866699,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000018667,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06471383571624756,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.061,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.95,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001377996.1",
"gene_symbol": "PPEF1",
"hgnc_id": 9243,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.221A>G",
"hgvs_p": "p.His74Arg"
}
],
"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
}