← 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: 22-30928034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30928034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30928034,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000397641.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.3015G>A",
"hgvs_p": "p.Leu1005Leu",
"transcript": "NM_001303256.3",
"protein_id": "NP_001290185.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "ENST00000397641.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.3015G>A",
"hgvs_p": "p.Leu1005Leu",
"transcript": "ENST00000397641.8",
"protein_id": "ENSP00000380763.2",
"transcript_support_level": 5,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 3900,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": "NM_001303256.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Leu943Leu",
"transcript": "ENST00000215862.8",
"protein_id": "ENSP00000215862.4",
"transcript_support_level": 1,
"aa_start": 943,
"aa_end": null,
"aa_length": 970,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.3015G>A",
"hgvs_p": "p.Leu1005Leu",
"transcript": "NM_001303257.2",
"protein_id": "NP_001290186.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1029,
"cds_start": 3015,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 3413,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Leu943Leu",
"transcript": "NM_014941.3",
"protein_id": "NP_055756.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 970,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 4279,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Leu166Leu",
"transcript": "ENST00000445980.5",
"protein_id": "ENSP00000402602.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 190,
"cds_start": 498,
"cds_end": null,
"cds_length": 573,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "XM_011530004.3",
"protein_id": "XP_011528306.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3915,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.3030G>A",
"hgvs_p": "p.Leu1010Leu",
"transcript": "XM_017028667.3",
"protein_id": "XP_016884156.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 3915,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Leu943Leu",
"transcript": "XM_047441203.1",
"protein_id": "XP_047297159.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 970,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 4010,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "c.2829G>A",
"hgvs_p": "p.Leu943Leu",
"transcript": "XM_047441204.1",
"protein_id": "XP_047297160.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 970,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 4169,
"cdna_end": null,
"cdna_length": 5926,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.195G>A",
"hgvs_p": null,
"transcript": "ENST00000429468.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 462,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.4461G>A",
"hgvs_p": null,
"transcript": "ENST00000674576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4711,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.700G>A",
"hgvs_p": null,
"transcript": "ENST00000674585.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.405G>A",
"hgvs_p": null,
"transcript": "ENST00000675027.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1706,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.1436G>A",
"hgvs_p": null,
"transcript": "ENST00000675317.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.647G>A",
"hgvs_p": null,
"transcript": "ENST00000675402.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 923,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.*768G>A",
"hgvs_p": null,
"transcript": "ENST00000675570.1",
"protein_id": "ENSP00000502691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.2857G>A",
"hgvs_p": null,
"transcript": "ENST00000675601.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3107,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.363G>A",
"hgvs_p": null,
"transcript": "ENST00000675779.1",
"protein_id": "ENSP00000502216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.767G>A",
"hgvs_p": null,
"transcript": "ENST00000675798.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1043,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.3858G>A",
"hgvs_p": null,
"transcript": "ENST00000676215.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4108,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.1260G>A",
"hgvs_p": null,
"transcript": "ENST00000676263.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"hgvs_c": "n.*768G>A",
"hgvs_p": null,
"transcript": "ENST00000675570.1",
"protein_id": "ENSP00000502691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MORC2-AS1",
"gene_hgnc_id": 26662,
"hgvs_c": "n.68-1843C>T",
"hgvs_p": null,
"transcript": "ENST00000441558.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MORC2-AS1",
"gene_hgnc_id": 26662,
"hgvs_c": "n.187-2313C>T",
"hgvs_p": null,
"transcript": "ENST00000835497.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MORC2-AS1",
"gene_hgnc_id": 26662,
"hgvs_c": "n.163-1843C>T",
"hgvs_p": null,
"transcript": "ENST00000835498.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MORC2",
"gene_hgnc_id": 23573,
"dbsnp": "rs765411579",
"frequency_reference_population": 6.843587e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84359e-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": 0.06499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.14,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000397641.8",
"gene_symbol": "MORC2",
"hgnc_id": 23573,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3015G>A",
"hgvs_p": "p.Leu1005Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441558.1",
"gene_symbol": "MORC2-AS1",
"hgnc_id": 26662,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68-1843C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}