← Back to variant description
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: 20-35115664-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35115664&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35115664,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018217.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"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.1506G>A",
"hgvs_p": "p.Met502Ile",
"transcript": "NM_018217.3",
"protein_id": "NP_060687.2",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 578,
"cds_start": 1506,
"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": "M",
"aa_alt": "I",
"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.1506G>A",
"hgvs_p": "p.Met502Ile",
"transcript": "ENST00000374492.8",
"protein_id": "ENSP00000363616.3",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 578,
"cds_start": 1506,
"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": "M",
"aa_alt": "I",
"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.1395G>A",
"hgvs_p": "p.Met465Ile",
"transcript": "ENST00000374491.3",
"protein_id": "ENSP00000363615.2",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 541,
"cds_start": 1395,
"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": "M",
"aa_alt": "I",
"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.1554G>A",
"hgvs_p": "p.Met518Ile",
"transcript": "ENST00000881595.1",
"protein_id": "ENSP00000551654.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 594,
"cds_start": 1554,
"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": "M",
"aa_alt": "I",
"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.1518G>A",
"hgvs_p": "p.Met506Ile",
"transcript": "ENST00000959812.1",
"protein_id": "ENSP00000629871.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 582,
"cds_start": 1518,
"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": "M",
"aa_alt": "I",
"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.1509G>A",
"hgvs_p": "p.Met503Ile",
"transcript": "ENST00000933155.1",
"protein_id": "ENSP00000603214.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 579,
"cds_start": 1509,
"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": "M",
"aa_alt": "I",
"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.1500G>A",
"hgvs_p": "p.Met500Ile",
"transcript": "ENST00000881599.1",
"protein_id": "ENSP00000551658.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 576,
"cds_start": 1500,
"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": "M",
"aa_alt": "I",
"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.1485G>A",
"hgvs_p": "p.Met495Ile",
"transcript": "ENST00000881600.1",
"protein_id": "ENSP00000551659.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 571,
"cds_start": 1485,
"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": "M",
"aa_alt": "I",
"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.1485G>A",
"hgvs_p": "p.Met495Ile",
"transcript": "ENST00000959811.1",
"protein_id": "ENSP00000629870.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 571,
"cds_start": 1485,
"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": "M",
"aa_alt": "I",
"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.1395G>A",
"hgvs_p": "p.Met465Ile",
"transcript": "NM_001145025.2",
"protein_id": "NP_001138497.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 541,
"cds_start": 1395,
"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": "M",
"aa_alt": "I",
"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.1395G>A",
"hgvs_p": "p.Met465Ile",
"transcript": "ENST00000881601.1",
"protein_id": "ENSP00000551660.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 541,
"cds_start": 1395,
"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": "M",
"aa_alt": "I",
"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.1383G>A",
"hgvs_p": "p.Met461Ile",
"transcript": "NM_001355008.2",
"protein_id": "NP_001341937.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 537,
"cds_start": 1383,
"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": "M",
"aa_alt": "I",
"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.1380G>A",
"hgvs_p": "p.Met460Ile",
"transcript": "ENST00000881597.1",
"protein_id": "ENSP00000551656.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 536,
"cds_start": 1380,
"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": "M",
"aa_alt": "I",
"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.1368G>A",
"hgvs_p": "p.Met456Ile",
"transcript": "ENST00000959810.1",
"protein_id": "ENSP00000629869.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 532,
"cds_start": 1368,
"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": "M",
"aa_alt": "I",
"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.1269G>A",
"hgvs_p": "p.Met423Ile",
"transcript": "ENST00000959814.1",
"protein_id": "ENSP00000629873.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 499,
"cds_start": 1269,
"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": "M",
"aa_alt": "I",
"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.1269G>A",
"hgvs_p": "p.Met423Ile",
"transcript": "ENST00000959815.1",
"protein_id": "ENSP00000629874.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 499,
"cds_start": 1269,
"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": "M",
"aa_alt": "I",
"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.1239G>A",
"hgvs_p": "p.Met413Ile",
"transcript": "ENST00000933156.1",
"protein_id": "ENSP00000603215.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 489,
"cds_start": 1239,
"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": "M",
"aa_alt": "I",
"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.1236G>A",
"hgvs_p": "p.Met412Ile",
"transcript": "ENST00000881598.1",
"protein_id": "ENSP00000551657.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 488,
"cds_start": 1236,
"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": "M",
"aa_alt": "I",
"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.1200G>A",
"hgvs_p": "p.Met400Ile",
"transcript": "ENST00000959813.1",
"protein_id": "ENSP00000629872.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 476,
"cds_start": 1200,
"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": "M",
"aa_alt": "I",
"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.1152G>A",
"hgvs_p": "p.Met384Ile",
"transcript": "ENST00000881594.1",
"protein_id": "ENSP00000551653.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 460,
"cds_start": 1152,
"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": "M",
"aa_alt": "I",
"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.1041G>A",
"hgvs_p": "p.Met347Ile",
"transcript": "ENST00000933158.1",
"protein_id": "ENSP00000603217.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 423,
"cds_start": 1041,
"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": "M",
"aa_alt": "I",
"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.1026G>A",
"hgvs_p": "p.Met342Ile",
"transcript": "ENST00000881596.1",
"protein_id": "ENSP00000551655.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 418,
"cds_start": 1026,
"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": "M",
"aa_alt": "I",
"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.915G>A",
"hgvs_p": "p.Met305Ile",
"transcript": "ENST00000933157.1",
"protein_id": "ENSP00000603216.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 381,
"cds_start": 915,
"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": "M",
"aa_alt": "I",
"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.756G>A",
"hgvs_p": "p.Met252Ile",
"transcript": "ENST00000933159.1",
"protein_id": "ENSP00000603218.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 328,
"cds_start": 756,
"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.1800G>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": "rs757480326",
"frequency_reference_population": 0.0000020521325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205213,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12456396222114563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.2946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.041,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018217.3",
"gene_symbol": "EDEM2",
"hgnc_id": 15877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1506G>A",
"hgvs_p": "p.Met502Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001355008.2",
"gene_symbol": "MMP24-AS1-EDEM2",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Met461Ile"
}
],
"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
}