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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: 6-31883457-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31883457&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31883457,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001363689.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2917-18T>G",
"hgvs_p": null,
"transcript": "NM_006709.5",
"protein_id": "NP_006700.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": null,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375537.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006709.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2917-18T>G",
"hgvs_p": null,
"transcript": "ENST00000375537.9",
"protein_id": "ENSP00000364687.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": null,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006709.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375537.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.3088-18T>G",
"hgvs_p": null,
"transcript": "ENST00000395728.7",
"protein_id": "ENSP00000379078.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": null,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395728.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.3088-18T>G",
"hgvs_p": null,
"transcript": "NM_001363689.2",
"protein_id": "NP_001350618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": null,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363689.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2917-18T>G",
"hgvs_p": null,
"transcript": "ENST00000962959.1",
"protein_id": "ENSP00000633018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": null,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.3010-18T>G",
"hgvs_p": null,
"transcript": "ENST00000962960.1",
"protein_id": "ENSP00000633019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": null,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2917-18T>G",
"hgvs_p": null,
"transcript": "ENST00000892701.1",
"protein_id": "ENSP00000562760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1240,
"cds_start": null,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2986-18T>G",
"hgvs_p": null,
"transcript": "NM_001289413.2",
"protein_id": "NP_001276342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": null,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289413.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2986-18T>G",
"hgvs_p": null,
"transcript": "ENST00000375528.8",
"protein_id": "ENSP00000364678.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": null,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375528.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2968-18T>G",
"hgvs_p": null,
"transcript": "ENST00000892698.1",
"protein_id": "ENSP00000562757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": null,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2944-18T>G",
"hgvs_p": null,
"transcript": "ENST00000892705.1",
"protein_id": "ENSP00000562764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": null,
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"cds_length": 3660,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000892705.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2938-18T>G",
"hgvs_p": null,
"transcript": "NM_001395160.1",
"protein_id": "NP_001382089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395160.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2938-18T>G",
"hgvs_p": null,
"transcript": "ENST00000892695.1",
"protein_id": "ENSP00000562754.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892695.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 22,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.2935-18T>G",
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"transcript": "ENST00000920078.1",
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"biotype": "protein_coding",
"feature": "ENST00000920078.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2914-18T>G",
"hgvs_p": null,
"transcript": "ENST00000920074.1",
"protein_id": "ENSP00000590133.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000920074.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 22,
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"gene_symbol": "EHMT2",
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"hgvs_c": "c.2914-18T>G",
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"transcript": "ENST00000920076.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2914-18T>G",
"hgvs_p": null,
"transcript": "ENST00000962957.1",
"protein_id": "ENSP00000633016.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000962957.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2884-18T>G",
"hgvs_p": null,
"transcript": "ENST00000892700.1",
"protein_id": "ENSP00000562759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1199,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
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"hgvs_c": "c.2872-18T>G",
"hgvs_p": null,
"transcript": "ENST00000892703.1",
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"feature": "ENST00000892703.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2854-18T>G",
"hgvs_p": null,
"transcript": "NM_001395161.1",
"protein_id": "NP_001382090.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2848-18T>G",
"hgvs_p": null,
"transcript": "ENST00000920073.1",
"protein_id": "ENSP00000590132.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920073.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2845-18T>G",
"hgvs_p": null,
"transcript": "ENST00000962958.1",
"protein_id": "ENSP00000633017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962958.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000480912.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "EHMT2",
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"transcript": "ENST00000494816.5",
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"biotype": "retained_intron",
"feature": "ENST00000494816.5"
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],
"gene_symbol": "EHMT2",
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"dbsnp": "rs652888",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.47,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001363689.2",
"gene_symbol": "EHMT2",
"hgnc_id": 14129,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3088-18T>G",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_174947.1",
"gene_symbol": "EHMT2-AS1",
"hgnc_id": 39751,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1824A>C",
"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
}