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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: 7-128394575-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128394575&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128394575,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000338791.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1575G>T",
"hgvs_p": "p.Ala525Ala",
"transcript": "NM_000883.4",
"protein_id": "NP_000874.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 599,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "ENST00000338791.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1575G>T",
"hgvs_p": "p.Ala525Ala",
"transcript": "ENST00000338791.11",
"protein_id": "ENSP00000345096.6",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 599,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "NM_000883.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Ala489Ala",
"transcript": "ENST00000348127.11",
"protein_id": "ENSP00000265385.8",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 563,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1545G>T",
"hgvs_p": "p.Ala515Ala",
"transcript": "NM_001102605.2",
"protein_id": "NP_001096075.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 589,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1545G>T",
"hgvs_p": "p.Ala515Ala",
"transcript": "ENST00000354269.9",
"protein_id": "ENSP00000346219.5",
"transcript_support_level": 2,
"aa_start": 515,
"aa_end": null,
"aa_length": 589,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1476G>T",
"hgvs_p": "p.Ala492Ala",
"transcript": "NM_001142576.2",
"protein_id": "NP_001136048.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 566,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1476G>T",
"hgvs_p": "p.Ala492Ala",
"transcript": "ENST00000419067.6",
"protein_id": "ENSP00000399400.2",
"transcript_support_level": 3,
"aa_start": 492,
"aa_end": null,
"aa_length": 566,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Ala489Ala",
"transcript": "NM_183243.3",
"protein_id": "NP_899066.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 563,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1368G>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "NM_001304521.2",
"protein_id": "NP_001291450.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 530,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1320G>T",
"hgvs_p": "p.Ala440Ala",
"transcript": "NM_001142573.2",
"protein_id": "NP_001136045.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 514,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1317G>T",
"hgvs_p": "p.Ala439Ala",
"transcript": "ENST00000470772.5",
"protein_id": "ENSP00000417296.1",
"transcript_support_level": 5,
"aa_start": 439,
"aa_end": null,
"aa_length": 513,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1305G>T",
"hgvs_p": "p.Ala435Ala",
"transcript": "NM_001142574.2",
"protein_id": "NP_001136046.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 509,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1305G>T",
"hgvs_p": "p.Ala435Ala",
"transcript": "ENST00000480861.5",
"protein_id": "ENSP00000420185.1",
"transcript_support_level": 2,
"aa_start": 435,
"aa_end": null,
"aa_length": 509,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1206G>T",
"hgvs_p": "p.Ala402Ala",
"transcript": "ENST00000648462.1",
"protein_id": "ENSP00000496892.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 508,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1245G>T",
"hgvs_p": "p.Ala415Ala",
"transcript": "NM_001142575.2",
"protein_id": "NP_001136047.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 489,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1245G>T",
"hgvs_p": "p.Ala415Ala",
"transcript": "ENST00000496200.5",
"protein_id": "ENSP00000420803.1",
"transcript_support_level": 2,
"aa_start": 415,
"aa_end": null,
"aa_length": 489,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1545G>T",
"hgvs_p": "p.Ala515Ala",
"transcript": "XM_024446755.1",
"protein_id": "XP_024302523.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 621,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1467G>T",
"hgvs_p": "p.Ala489Ala",
"transcript": "XM_024446756.1",
"protein_id": "XP_024302524.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 595,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1368G>T",
"hgvs_p": "p.Ala456Ala",
"transcript": "XM_024446757.2",
"protein_id": "XP_024302525.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 562,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1344G>T",
"hgvs_p": "p.Ala448Ala",
"transcript": "XM_024446758.1",
"protein_id": "XP_024302526.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 554,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.957G>T",
"hgvs_p": "p.Ala319Ala",
"transcript": "XM_047420333.1",
"protein_id": "XP_047276289.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 425,
"cds_start": 957,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.957G>T",
"hgvs_p": "p.Ala319Ala",
"transcript": "XM_047420334.1",
"protein_id": "XP_047276290.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 393,
"cds_start": 957,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "n.465G>T",
"hgvs_p": null,
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},
{
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"canonical": false,
"protein_coding": false,
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},
{
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
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"gene_symbol": "IMPDH1",
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}
],
"gene_symbol": "IMPDH1",
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"dbsnp": "rs2228075",
"frequency_reference_population": 0.0000037187717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.000003421,
"gnomad_genomes_af": 0.00000658441,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.5400000214576721,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.884,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.54,
"spliceai_max_prediction": "Pathogenic",
"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": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000338791.11",
"gene_symbol": "IMPDH1",
"hgnc_id": 6052,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1575G>T",
"hgvs_p": "p.Ala525Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}