← 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: 6-15410225-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=15410225&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 15410225,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_004973.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "NM_004973.4",
"protein_id": "NP_004964.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1246,
"cds_start": 183,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341776.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004973.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000341776.7",
"protein_id": "ENSP00000341280.2",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 1246,
"cds_start": 183,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004973.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341776.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "NM_001267040.1",
"protein_id": "NP_001253969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "ENST00000397311.4",
"protein_id": "ENSP00000380478.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397311.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-56G>T",
"hgvs_p": null,
"transcript": "XM_047418740.1",
"protein_id": "XP_047274696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1110,
"cds_start": null,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "XM_047418741.1",
"protein_id": "XP_047274697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-379G>T",
"hgvs_p": null,
"transcript": "XM_047418742.1",
"protein_id": "XP_047274698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "XM_047418748.1",
"protein_id": "XP_047274704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": null,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418748.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000853926.1",
"protein_id": "ENSP00000523985.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1246,
"cds_start": 183,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853926.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000853927.1",
"protein_id": "ENSP00000523986.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1246,
"cds_start": 183,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853927.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000930272.1",
"protein_id": "ENSP00000600331.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1246,
"cds_start": 183,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930272.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000930274.1",
"protein_id": "ENSP00000600333.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1210,
"cds_start": 183,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930274.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000930276.1",
"protein_id": "ENSP00000600335.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1187,
"cds_start": 183,
"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": "ENST00000930276.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000930273.1",
"protein_id": "ENSP00000600332.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1185,
"cds_start": 183,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930273.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "ENST00000930275.1",
"protein_id": "ENSP00000600334.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 838,
"cds_start": 183,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930275.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.327G>T",
"hgvs_p": "p.Gly109Gly",
"transcript": "XM_011514579.4",
"protein_id": "XP_011512881.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1309,
"cds_start": 327,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514579.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.327G>T",
"hgvs_p": "p.Gly109Gly",
"transcript": "XM_017010833.3",
"protein_id": "XP_016866322.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1294,
"cds_start": 327,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010833.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.273G>T",
"hgvs_p": "p.Gly91Gly",
"transcript": "XM_047418735.1",
"protein_id": "XP_047274691.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 1276,
"cds_start": 273,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418735.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "XM_047418736.1",
"protein_id": "XP_047274692.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1261,
"cds_start": 183,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418736.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Gly56Gly",
"transcript": "XM_047418737.1",
"protein_id": "XP_047274693.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1241,
"cds_start": 168,
"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": "XM_047418737.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.168G>T",
"hgvs_p": "p.Gly56Gly",
"transcript": "XM_047418738.1",
"protein_id": "XP_047274694.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1241,
"cds_start": 168,
"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": "XM_047418738.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.69G>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "XM_024446424.2",
"protein_id": "XP_024302192.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1223,
"cds_start": 69,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446424.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.69G>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "XM_047418739.1",
"protein_id": "XP_047274695.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 1208,
"cds_start": 69,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418739.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.327G>T",
"hgvs_p": "p.Gly109Gly",
"transcript": "XM_047418744.1",
"protein_id": "XP_047274700.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 1046,
"cds_start": 327,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418744.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "XM_047418745.1",
"protein_id": "XP_047274701.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1013,
"cds_start": 183,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418745.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly",
"transcript": "XM_047418746.1",
"protein_id": "XP_047274702.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 998,
"cds_start": 183,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418746.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.69G>T",
"hgvs_p": "p.Gly23Gly",
"transcript": "XM_024446425.2",
"protein_id": "XP_024302193.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 960,
"cds_start": 69,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446425.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "NM_001267040.1",
"protein_id": "NP_001253969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "ENST00000397311.4",
"protein_id": "ENSP00000380478.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397311.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-56G>T",
"hgvs_p": null,
"transcript": "XM_047418740.1",
"protein_id": "XP_047274696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1110,
"cds_start": null,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "XM_047418741.1",
"protein_id": "XP_047274697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-379G>T",
"hgvs_p": null,
"transcript": "XM_047418742.1",
"protein_id": "XP_047274698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-334G>T",
"hgvs_p": null,
"transcript": "XM_047418748.1",
"protein_id": "XP_047274704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 826,
"cds_start": null,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418748.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-239+35973G>T",
"hgvs_p": null,
"transcript": "XM_017010835.3",
"protein_id": "XP_016866324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010835.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"hgvs_c": "c.-194+35973G>T",
"hgvs_p": null,
"transcript": "XM_047418743.1",
"protein_id": "XP_047274699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309943",
"gene_hgnc_id": null,
"hgvs_c": "n.137+5775C>A",
"hgvs_p": null,
"transcript": "ENST00000846078.1",
"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": "ENST00000846078.1"
}
],
"gene_symbol": "JARID2",
"gene_hgnc_id": 6196,
"dbsnp": "rs1045561948",
"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": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.5479999780654907,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.53,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.401592723927276,
"dbscsnv_ada_prediction": "Benign",
"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": "NM_004973.4",
"gene_symbol": "JARID2",
"hgnc_id": 6196,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Gly61Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000846078.1",
"gene_symbol": "ENSG00000309943",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.137+5775C>A",
"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
}