← 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: 21-41801420-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41801420&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41801420,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022115.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Thr1082Thr",
"transcript": "NM_001040424.3",
"protein_id": "NP_001035514.2",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3246,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398548.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040424.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Thr1082Thr",
"transcript": "ENST00000398548.6",
"protein_id": "ENSP00000381556.2",
"transcript_support_level": 1,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3246,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040424.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398548.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3444G>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "ENST00000269844.5",
"protein_id": "ENSP00000269844.4",
"transcript_support_level": 1,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3444,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269844.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "ENST00000422911.6",
"protein_id": "ENSP00000408592.2",
"transcript_support_level": 1,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "ENST00000422911.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1697G>A",
"hgvs_p": null,
"transcript": "ENST00000441787.5",
"protein_id": "ENSP00000387958.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000441787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.3246G>A",
"hgvs_p": null,
"transcript": "ENST00000447016.6",
"protein_id": "ENSP00000431410.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000447016.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1697G>A",
"hgvs_p": null,
"transcript": "ENST00000449395.6",
"protein_id": "ENSP00000396943.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000449395.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.907G>A",
"hgvs_p": null,
"transcript": "ENST00000470586.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000470586.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.5403G>A",
"hgvs_p": null,
"transcript": "ENST00000486812.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000486812.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1697G>A",
"hgvs_p": null,
"transcript": "ENST00000441787.5",
"protein_id": "ENSP00000387958.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000441787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*1697G>A",
"hgvs_p": null,
"transcript": "ENST00000449395.6",
"protein_id": "ENSP00000396943.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000449395.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3444G>A",
"hgvs_p": "p.Thr1148Thr",
"transcript": "NM_022115.7",
"protein_id": "NP_071398.5",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3444,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022115.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "NM_001282934.2",
"protein_id": "NP_001269863.2",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "NM_001282934.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "ENST00000927550.1",
"protein_id": "ENSP00000597609.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "ENST00000927550.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3795G>A",
"hgvs_p": "p.Thr1265Thr",
"transcript": "XM_011529683.2",
"protein_id": "XP_011527985.2",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3795,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529683.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3318G>A",
"hgvs_p": "p.Thr1106Thr",
"transcript": "XM_011529681.4",
"protein_id": "XP_011527983.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3318,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529681.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "XM_011529675.2",
"protein_id": "XP_011527977.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "XM_011529675.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "XM_011529676.3",
"protein_id": "XP_011527978.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "XM_011529676.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "XM_011529677.3",
"protein_id": "XP_011527979.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "XM_011529677.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "XM_011529678.3",
"protein_id": "XP_011527980.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "XM_011529678.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3306G>A",
"hgvs_p": "p.Thr1102Thr",
"transcript": "XM_011529679.3",
"protein_id": "XP_011527981.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1161,
"cds_start": 3306,
"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": "XM_011529679.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Thr1082Thr",
"transcript": "XM_017028425.2",
"protein_id": "XP_016883914.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3246,
"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": "XM_017028425.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Thr1082Thr",
"transcript": "XM_047440936.1",
"protein_id": "XP_047296892.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1141,
"cds_start": 3246,
"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": "XM_047440936.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3204G>A",
"hgvs_p": "p.Thr1068Thr",
"transcript": "XM_011529674.2",
"protein_id": "XP_011527976.2",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1127,
"cds_start": 3204,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529674.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Thr1058Thr",
"transcript": "XM_006724039.3",
"protein_id": "XP_006724102.2",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724039.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3174G>A",
"hgvs_p": "p.Thr1058Thr",
"transcript": "XM_047440937.1",
"protein_id": "XP_047296893.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440937.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3144G>A",
"hgvs_p": "p.Thr1048Thr",
"transcript": "XM_047440935.1",
"protein_id": "XP_047296891.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440935.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3144G>A",
"hgvs_p": "p.Thr1048Thr",
"transcript": "XM_047440938.1",
"protein_id": "XP_047296894.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440938.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3114G>A",
"hgvs_p": "p.Thr1038Thr",
"transcript": "XM_006724040.3",
"protein_id": "XP_006724103.2",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724040.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3114G>A",
"hgvs_p": "p.Thr1038Thr",
"transcript": "XM_047440939.1",
"protein_id": "XP_047296895.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440939.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "c.3012G>A",
"hgvs_p": "p.Thr1004Thr",
"transcript": "XM_047440940.1",
"protein_id": "XP_047296896.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1063,
"cds_start": 3012,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440940.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.3338G>A",
"hgvs_p": null,
"transcript": "NR_104257.2",
"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_104257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.3218G>A",
"hgvs_p": null,
"transcript": "NR_104258.2",
"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_104258.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.3323G>A",
"hgvs_p": null,
"transcript": "NR_104260.1",
"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_104260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.3326G>A",
"hgvs_p": null,
"transcript": "NR_135464.2",
"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_135464.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*208G>A",
"hgvs_p": null,
"transcript": "ENST00000465955.1",
"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": "retained_intron",
"feature": "ENST00000465955.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"hgvs_c": "n.*237G>A",
"hgvs_p": null,
"transcript": "ENST00000477633.1",
"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": "ENST00000477633.1"
}
],
"gene_symbol": "PRDM15",
"gene_hgnc_id": 13999,
"dbsnp": "rs116436673",
"frequency_reference_population": 0.00030855133,
"hom_count_reference_population": 2,
"allele_count_reference_population": 498,
"gnomad_exomes_af": 0.000160077,
"gnomad_genomes_af": 0.00173454,
"gnomad_exomes_ac": 234,
"gnomad_genomes_ac": 264,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.775,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022115.7",
"gene_symbol": "PRDM15",
"hgnc_id": 13999,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3444G>A",
"hgvs_p": "p.Thr1148Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}