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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: 6-31884482-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31884482&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31884482,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363689.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "NM_006709.5",
"protein_id": "NP_006700.3",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2681,
"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": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000375537.9",
"protein_id": "ENSP00000364687.4",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2681,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "ENST00000395728.7",
"protein_id": "ENSP00000379078.3",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2852,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His",
"transcript": "NM_001363689.2",
"protein_id": "NP_001350618.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2852,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000962959.1",
"protein_id": "ENSP00000633018.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2681,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000962960.1",
"protein_id": "ENSP00000633019.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2681,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000892701.1",
"protein_id": "ENSP00000562760.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2681,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917His",
"transcript": "NM_001289413.2",
"protein_id": "NP_001276342.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2750,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917His",
"transcript": "ENST00000375528.8",
"protein_id": "ENSP00000364678.4",
"transcript_support_level": 2,
"aa_start": 917,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2750,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000892698.1",
"protein_id": "ENSP00000562757.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2681,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903His",
"transcript": "ENST00000892705.1",
"protein_id": "ENSP00000562764.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892705.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2702G>A",
"hgvs_p": "p.Arg901His",
"transcript": "NM_001395160.1",
"protein_id": "NP_001382089.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2702,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395160.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2702G>A",
"hgvs_p": "p.Arg901His",
"transcript": "ENST00000892695.1",
"protein_id": "ENSP00000562754.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2702,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892695.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2699G>A",
"hgvs_p": "p.Arg900His",
"transcript": "ENST00000920078.1",
"protein_id": "ENSP00000590137.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920078.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893His",
"transcript": "ENST00000920074.1",
"protein_id": "ENSP00000590133.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920074.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893His",
"transcript": "ENST00000920076.1",
"protein_id": "ENSP00000590135.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920076.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893His",
"transcript": "ENST00000962957.1",
"protein_id": "ENSP00000633016.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962957.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2648G>A",
"hgvs_p": "p.Arg883His",
"transcript": "ENST00000892700.1",
"protein_id": "ENSP00000562759.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2648,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892700.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2636G>A",
"hgvs_p": "p.Arg879His",
"transcript": "ENST00000892703.1",
"protein_id": "ENSP00000562762.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2636,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892703.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2618G>A",
"hgvs_p": "p.Arg873His",
"transcript": "NM_001395161.1",
"protein_id": "NP_001382090.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2618,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395161.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2612G>A",
"hgvs_p": "p.Arg871His",
"transcript": "ENST00000920073.1",
"protein_id": "ENSP00000590132.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920073.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2609G>A",
"hgvs_p": "p.Arg870His",
"transcript": "ENST00000962958.1",
"protein_id": "ENSP00000633017.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2609,
"cds_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480912.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "n.1759G>A",
"hgvs_p": null,
"transcript": "ENST00000494816.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000494816.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "n.*191G>A",
"hgvs_p": null,
"transcript": "ENST00000477678.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000477678.1"
}
],
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"dbsnp": "rs143327875",
"frequency_reference_population": 0.000021081036,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000109537,
"gnomad_genomes_af": 0.000118321,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1517622172832489,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.0871,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.691,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001363689.2",
"gene_symbol": "EHMT2",
"hgnc_id": 14129,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2852G>A",
"hgvs_p": "p.Arg951His"
}
],
"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
}