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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: 3-49024731-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49024731&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49024731,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001410759.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1367T>A",
"hgvs_p": "p.Phe456Tyr",
"transcript": "NM_000884.3",
"protein_id": "NP_000875.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 514,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": "ENST00000326739.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000884.3"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1367T>A",
"hgvs_p": "p.Phe456Tyr",
"transcript": "ENST00000326739.9",
"protein_id": "ENSP00000321584.4",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 514,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": "NM_000884.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326739.9"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290315",
"gene_hgnc_id": null,
"hgvs_c": "c.3407T>A",
"hgvs_p": "p.Phe1136Tyr",
"transcript": "ENST00000703936.1",
"protein_id": "ENSP00000515567.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703936.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1535T>A",
"hgvs_p": "p.Phe512Tyr",
"transcript": "ENST00000937815.1",
"protein_id": "ENSP00000607874.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 570,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937815.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1439T>A",
"hgvs_p": "p.Phe480Tyr",
"transcript": "NM_001410759.1",
"protein_id": "NP_001397688.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 538,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410759.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1439T>A",
"hgvs_p": "p.Phe480Tyr",
"transcript": "ENST00000429182.6",
"protein_id": "ENSP00000393525.2",
"transcript_support_level": 5,
"aa_start": 480,
"aa_end": null,
"aa_length": 538,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429182.6"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1436T>A",
"hgvs_p": "p.Phe479Tyr",
"transcript": "ENST00000968719.1",
"protein_id": "ENSP00000638778.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 537,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968719.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1427T>A",
"hgvs_p": "p.Phe476Tyr",
"transcript": "ENST00000968723.1",
"protein_id": "ENSP00000638782.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 534,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968723.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1415T>A",
"hgvs_p": "p.Phe472Tyr",
"transcript": "ENST00000937818.1",
"protein_id": "ENSP00000607877.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 530,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937818.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1403T>A",
"hgvs_p": "p.Phe468Tyr",
"transcript": "ENST00000937813.1",
"protein_id": "ENSP00000607872.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 526,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937813.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1391T>A",
"hgvs_p": "p.Phe464Tyr",
"transcript": "ENST00000677010.1",
"protein_id": "ENSP00000503089.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 522,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677010.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1385T>A",
"hgvs_p": "p.Phe462Tyr",
"transcript": "ENST00000881196.1",
"protein_id": "ENSP00000551255.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 520,
"cds_start": 1385,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881196.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1382T>A",
"hgvs_p": "p.Phe461Tyr",
"transcript": "ENST00000881195.1",
"protein_id": "ENSP00000551254.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 519,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881195.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1382T>A",
"hgvs_p": "p.Phe461Tyr",
"transcript": "ENST00000968724.1",
"protein_id": "ENSP00000638783.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 519,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968724.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1364T>A",
"hgvs_p": "p.Phe455Tyr",
"transcript": "NM_001410760.1",
"protein_id": "NP_001397689.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 513,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410760.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1364T>A",
"hgvs_p": "p.Phe455Tyr",
"transcript": "ENST00000678724.1",
"protein_id": "ENSP00000503874.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 513,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678724.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1364T>A",
"hgvs_p": "p.Phe455Tyr",
"transcript": "ENST00000937811.1",
"protein_id": "ENSP00000607870.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 513,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937811.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1367T>A",
"hgvs_p": "p.Phe456Tyr",
"transcript": "ENST00000937820.1",
"protein_id": "ENSP00000607879.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 513,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937820.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1361T>A",
"hgvs_p": "p.Phe454Tyr",
"transcript": "ENST00000937810.1",
"protein_id": "ENSP00000607869.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 512,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937810.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1361T>A",
"hgvs_p": "p.Phe454Tyr",
"transcript": "ENST00000937817.1",
"protein_id": "ENSP00000607876.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 512,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937817.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1355T>A",
"hgvs_p": "p.Phe452Tyr",
"transcript": "ENST00000881190.1",
"protein_id": "ENSP00000551249.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 510,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881190.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1355T>A",
"hgvs_p": "p.Phe452Tyr",
"transcript": "ENST00000881194.1",
"protein_id": "ENSP00000551253.1",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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"feature": "ENST00000679019.1"
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{
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "IMPDH2",
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"biotype": "retained_intron",
"feature": "ENST00000679339.1"
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{
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"protein_coding": false,
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],
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{
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},
{
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"feature": "ENST00000679117.1"
},
{
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"3_prime_UTR_variant"
],
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"cds_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703937.1"
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],
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"dbsnp": "rs1422557723",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5938275456428528,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.443,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2342,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.799,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410759.1",
"gene_symbol": "IMPDH2",
"hgnc_id": 6053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1439T>A",
"hgvs_p": "p.Phe480Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000703936.1",
"gene_symbol": "ENSG00000290315",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3407T>A",
"hgvs_p": "p.Phe1136Tyr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}