← 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: 6-31884420-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31884420&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31884420,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363689.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "NM_006709.5",
"protein_id": "NP_006700.3",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2743,
"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": "A",
"aa_alt": "T",
"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.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "ENST00000375537.9",
"protein_id": "ENSP00000364687.4",
"transcript_support_level": 1,
"aa_start": 915,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2743,
"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": "A",
"aa_alt": "T",
"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.2914G>A",
"hgvs_p": "p.Ala972Thr",
"transcript": "ENST00000395728.7",
"protein_id": "ENSP00000379078.3",
"transcript_support_level": 1,
"aa_start": 972,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2914,
"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": "A",
"aa_alt": "T",
"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.2914G>A",
"hgvs_p": "p.Ala972Thr",
"transcript": "NM_001363689.2",
"protein_id": "NP_001350618.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1267,
"cds_start": 2914,
"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": "A",
"aa_alt": "T",
"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.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "ENST00000962959.1",
"protein_id": "ENSP00000633018.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2743,
"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": "A",
"aa_alt": "T",
"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.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "ENST00000962960.1",
"protein_id": "ENSP00000633019.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2743,
"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": "A",
"aa_alt": "T",
"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.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "ENST00000892701.1",
"protein_id": "ENSP00000562760.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2743,
"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": "A",
"aa_alt": "T",
"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.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "NM_001289413.2",
"protein_id": "NP_001276342.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2812,
"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": "A",
"aa_alt": "T",
"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.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "ENST00000375528.8",
"protein_id": "ENSP00000364678.4",
"transcript_support_level": 2,
"aa_start": 938,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2812,
"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": "A",
"aa_alt": "T",
"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.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "ENST00000892698.1",
"protein_id": "ENSP00000562757.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2743,
"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": "A",
"aa_alt": "T",
"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.2770G>A",
"hgvs_p": "p.Ala924Thr",
"transcript": "ENST00000892705.1",
"protein_id": "ENSP00000562764.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2770,
"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": "A",
"aa_alt": "T",
"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.2764G>A",
"hgvs_p": "p.Ala922Thr",
"transcript": "NM_001395160.1",
"protein_id": "NP_001382089.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2764,
"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": "A",
"aa_alt": "T",
"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.2764G>A",
"hgvs_p": "p.Ala922Thr",
"transcript": "ENST00000892695.1",
"protein_id": "ENSP00000562754.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2764,
"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": "A",
"aa_alt": "T",
"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.2761G>A",
"hgvs_p": "p.Ala921Thr",
"transcript": "ENST00000920078.1",
"protein_id": "ENSP00000590137.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2761,
"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": "A",
"aa_alt": "T",
"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.2740G>A",
"hgvs_p": "p.Ala914Thr",
"transcript": "ENST00000920074.1",
"protein_id": "ENSP00000590133.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2740,
"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": "A",
"aa_alt": "T",
"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.2740G>A",
"hgvs_p": "p.Ala914Thr",
"transcript": "ENST00000920076.1",
"protein_id": "ENSP00000590135.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2740,
"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": "A",
"aa_alt": "T",
"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.2740G>A",
"hgvs_p": "p.Ala914Thr",
"transcript": "ENST00000962957.1",
"protein_id": "ENSP00000633016.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2740,
"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": "A",
"aa_alt": "T",
"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.2710G>A",
"hgvs_p": "p.Ala904Thr",
"transcript": "ENST00000892700.1",
"protein_id": "ENSP00000562759.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2710,
"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": "A",
"aa_alt": "T",
"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.2698G>A",
"hgvs_p": "p.Ala900Thr",
"transcript": "ENST00000892703.1",
"protein_id": "ENSP00000562762.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2698,
"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": "A",
"aa_alt": "T",
"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.2680G>A",
"hgvs_p": "p.Ala894Thr",
"transcript": "NM_001395161.1",
"protein_id": "NP_001382090.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2680,
"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": "A",
"aa_alt": "T",
"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.2674G>A",
"hgvs_p": "p.Ala892Thr",
"transcript": "ENST00000920073.1",
"protein_id": "ENSP00000590132.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2674,
"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": "A",
"aa_alt": "T",
"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.2671G>A",
"hgvs_p": "p.Ala891Thr",
"transcript": "ENST00000962958.1",
"protein_id": "ENSP00000633017.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2671,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962958.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2743G>A",
"hgvs_p": "p.Ala915Thr",
"transcript": "NM_001395162.1",
"protein_id": "NP_001382091.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2743,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395162.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2662G>A",
"hgvs_p": "p.Ala888Thr",
"transcript": "NM_001395163.1",
"protein_id": "NP_001382092.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1183,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395163.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2662G>A",
"hgvs_p": "p.Ala888Thr",
"transcript": "ENST00000892697.1",
"protein_id": "ENSP00000562756.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1183,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892697.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2659G>A",
"hgvs_p": "p.Ala887Thr",
"transcript": "ENST00000962961.1",
"protein_id": "ENSP00000633020.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962961.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2641G>A",
"hgvs_p": "p.Ala881Thr",
"transcript": "NM_025256.7",
"protein_id": "NP_079532.5",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1176,
"cds_start": 2641,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025256.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2641G>A",
"hgvs_p": "p.Ala881Thr",
"transcript": "ENST00000375530.8",
"protein_id": "ENSP00000364680.4",
"transcript_support_level": 5,
"aa_start": 881,
"aa_end": null,
"aa_length": 1176,
"cds_start": 2641,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375530.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2638G>A",
"hgvs_p": "p.Ala880Thr",
"transcript": "NM_001395164.1",
"protein_id": "NP_001382093.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395164.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2638G>A",
"hgvs_p": "p.Ala880Thr",
"transcript": "ENST00000892696.1",
"protein_id": "ENSP00000562755.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892696.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2638G>A",
"hgvs_p": "p.Ala880Thr",
"transcript": "ENST00000892702.1",
"protein_id": "ENSP00000562761.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1175,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892702.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2620G>A",
"hgvs_p": "p.Ala874Thr",
"transcript": "ENST00000920077.1",
"protein_id": "ENSP00000590136.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 1169,
"cds_start": 2620,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920077.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2596G>A",
"hgvs_p": "p.Ala866Thr",
"transcript": "ENST00000920075.1",
"protein_id": "ENSP00000590134.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2596,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920075.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2536G>A",
"hgvs_p": "p.Ala846Thr",
"transcript": "ENST00000892706.1",
"protein_id": "ENSP00000562765.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2536,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892706.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2524G>A",
"hgvs_p": "p.Ala842Thr",
"transcript": "ENST00000892704.1",
"protein_id": "ENSP00000562763.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2524,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892704.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2485G>A",
"hgvs_p": "p.Ala829Thr",
"transcript": "NM_001395165.1",
"protein_id": "NP_001382094.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395165.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.2422G>A",
"hgvs_p": "p.Ala808Thr",
"transcript": "ENST00000892707.1",
"protein_id": "ENSP00000562766.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2422,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892707.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "NM_001318833.2",
"protein_id": "NP_001305762.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2137,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318833.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Ala376Thr",
"transcript": "ENST00000892699.1",
"protein_id": "ENSP00000562758.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 671,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892699.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Ala245Thr",
"transcript": "ENST00000436026.1",
"protein_id": "ENSP00000412353.1",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 296,
"cds_start": 733,
"cds_end": null,
"cds_length": 893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436026.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.3298G>A",
"hgvs_p": "p.Ala1100Thr",
"transcript": "XM_006714974.2",
"protein_id": "XP_006715037.2",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3298,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714974.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.3196G>A",
"hgvs_p": "p.Ala1066Thr",
"transcript": "XM_006714975.2",
"protein_id": "XP_006715038.2",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1361,
"cds_start": 3196,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714975.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "n.610G>A",
"hgvs_p": null,
"transcript": "ENST00000461880.5",
"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": "ENST00000461880.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"hgvs_c": "n.302G>A",
"hgvs_p": null,
"transcript": "ENST00000478491.5",
"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": "pseudogene",
"feature": "ENST00000478491.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.2725G>A",
"hgvs_p": null,
"transcript": "ENST00000480912.5",
"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": "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.1821G>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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2-AS1",
"gene_hgnc_id": 39751,
"hgvs_c": "n.*216C>T",
"hgvs_p": null,
"transcript": "ENST00000434689.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000434689.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2-AS1",
"gene_hgnc_id": 39751,
"hgvs_c": "n.*216C>T",
"hgvs_p": null,
"transcript": "ENST00000642849.1",
"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": "ENST00000642849.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT2-AS1",
"gene_hgnc_id": 39751,
"hgvs_c": "n.*216C>T",
"hgvs_p": null,
"transcript": "NR_174947.1",
"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_174947.1"
}
],
"gene_symbol": "EHMT2",
"gene_hgnc_id": 14129,
"dbsnp": "rs1225981589",
"frequency_reference_population": null,
"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": 0.19902119040489197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.0704,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.2,
"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": 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_001363689.2",
"gene_symbol": "EHMT2",
"hgnc_id": 14129,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Ala972Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434689.2",
"gene_symbol": "EHMT2-AS1",
"hgnc_id": 39751,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*216C>T",
"hgvs_p": null
}
],
"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
}