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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: 20-35115720-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35115720&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35115720,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018217.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Ala484Thr",
"transcript": "NM_018217.3",
"protein_id": "NP_060687.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 578,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374492.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018217.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Ala484Thr",
"transcript": "ENST00000374492.8",
"protein_id": "ENSP00000363616.3",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 578,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018217.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374492.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000374491.3",
"protein_id": "ENSP00000363615.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 541,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374491.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Ala500Thr",
"transcript": "ENST00000881595.1",
"protein_id": "ENSP00000551654.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 594,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881595.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Ala488Thr",
"transcript": "ENST00000959812.1",
"protein_id": "ENSP00000629871.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 582,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959812.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Ala485Thr",
"transcript": "ENST00000933155.1",
"protein_id": "ENSP00000603214.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 579,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933155.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Ala482Thr",
"transcript": "ENST00000881599.1",
"protein_id": "ENSP00000551658.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 576,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881599.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Ala477Thr",
"transcript": "ENST00000881600.1",
"protein_id": "ENSP00000551659.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 571,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881600.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Ala477Thr",
"transcript": "ENST00000959811.1",
"protein_id": "ENSP00000629870.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 571,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959811.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "NM_001145025.2",
"protein_id": "NP_001138497.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 541,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145025.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Ala447Thr",
"transcript": "ENST00000881601.1",
"protein_id": "ENSP00000551660.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 541,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881601.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24-AS1-EDEM2",
"gene_hgnc_id": null,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Ala443Thr",
"transcript": "NM_001355008.2",
"protein_id": "NP_001341937.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 537,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355008.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Ala442Thr",
"transcript": "ENST00000881597.1",
"protein_id": "ENSP00000551656.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 536,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881597.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "ENST00000959810.1",
"protein_id": "ENSP00000629869.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 532,
"cds_start": 1312,
"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": "ENST00000959810.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Ala405Thr",
"transcript": "ENST00000959814.1",
"protein_id": "ENSP00000629873.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 499,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959814.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Ala405Thr",
"transcript": "ENST00000959815.1",
"protein_id": "ENSP00000629874.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 499,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959815.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000933156.1",
"protein_id": "ENSP00000603215.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 489,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933156.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Ala394Thr",
"transcript": "ENST00000881598.1",
"protein_id": "ENSP00000551657.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 488,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881598.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Ala382Thr",
"transcript": "ENST00000959813.1",
"protein_id": "ENSP00000629872.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 476,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959813.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"transcript": "ENST00000881594.1",
"protein_id": "ENSP00000551653.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 460,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881594.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Ala329Thr",
"transcript": "ENST00000933158.1",
"protein_id": "ENSP00000603217.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 423,
"cds_start": 985,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933158.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Ala324Thr",
"transcript": "ENST00000881596.1",
"protein_id": "ENSP00000551655.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 418,
"cds_start": 970,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881596.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Ala287Thr",
"transcript": "ENST00000933157.1",
"protein_id": "ENSP00000603216.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 381,
"cds_start": 859,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933157.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Ala234Thr",
"transcript": "ENST00000933159.1",
"protein_id": "ENSP00000603218.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 328,
"cds_start": 700,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "n.1744G>A",
"hgvs_p": null,
"transcript": "NR_026728.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_026728.2"
}
],
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"dbsnp": "rs145586492",
"frequency_reference_population": 0.00016354932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 264,
"gnomad_exomes_af": 0.000158699,
"gnomad_genomes_af": 0.000210106,
"gnomad_exomes_ac": 232,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3350948691368103,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.2341,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.726,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_018217.3",
"gene_symbol": "EDEM2",
"hgnc_id": 15877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Ala484Thr"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001355008.2",
"gene_symbol": "MMP24-AS1-EDEM2",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Ala443Thr"
}
],
"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
}