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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-82248917-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82248917&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82248917,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001363749.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "NM_001893.6",
"protein_id": "NP_001884.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 415,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": "ENST00000314028.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001893.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "ENST00000314028.11",
"protein_id": "ENSP00000324464.6",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 415,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": "NM_001893.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314028.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "ENST00000392334.7",
"protein_id": "ENSP00000376146.2",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 409,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392334.7"
},
{
"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": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*727C>T",
"hgvs_p": null,
"transcript": "ENST00000580784.5",
"protein_id": "ENSP00000463906.1",
"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": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580784.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*727C>T",
"hgvs_p": null,
"transcript": "ENST00000580784.5",
"protein_id": "ENSP00000463906.1",
"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": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580784.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "ENST00000865418.1",
"protein_id": "ENSP00000535477.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 436,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865418.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "NM_001363749.2",
"protein_id": "NP_001350678.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 427,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363749.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "ENST00000398519.9",
"protein_id": "ENSP00000381531.5",
"transcript_support_level": 5,
"aa_start": 385,
"aa_end": null,
"aa_length": 427,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398519.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "NM_139062.4",
"protein_id": "NP_620693.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 409,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139062.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1137C>T",
"hgvs_p": "p.Asp379Asp",
"transcript": "ENST00000865420.1",
"protein_id": "ENSP00000535479.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 409,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865420.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "XM_005256336.5",
"protein_id": "XP_005256393.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 450,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256336.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "XM_047435379.1",
"protein_id": "XP_047291335.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 432,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435379.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp",
"transcript": "XM_047435380.1",
"protein_id": "XP_047291336.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 400,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435380.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Asp328Asp",
"transcript": "XM_047435381.1",
"protein_id": "XP_047291337.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 393,
"cds_start": 984,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 6457,
"cdna_end": null,
"cdna_length": 8902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "c.1104+51C>T",
"hgvs_p": null,
"transcript": "ENST00000865419.1",
"protein_id": "ENSP00000535478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865419.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A3",
"gene_hgnc_id": 10924,
"hgvs_c": "c.724+11024G>A",
"hgvs_p": null,
"transcript": "ENST00000583025.1",
"protein_id": "ENSP00000463005.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*469C>T",
"hgvs_p": null,
"transcript": "ENST00000269361.11",
"protein_id": "ENSP00000269361.7",
"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": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000269361.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*545C>T",
"hgvs_p": null,
"transcript": "ENST00000403276.7",
"protein_id": "ENSP00000385769.3",
"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": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000403276.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.580C>T",
"hgvs_p": null,
"transcript": "ENST00000578501.5",
"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": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578501.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.408C>T",
"hgvs_p": null,
"transcript": "ENST00000580565.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000580565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*649C>T",
"hgvs_p": null,
"transcript": "ENST00000581241.6",
"protein_id": "ENSP00000521007.1",
"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": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581241.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.248C>T",
"hgvs_p": null,
"transcript": "ENST00000581737.1",
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000581737.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.2254C>T",
"hgvs_p": null,
"transcript": "ENST00000584377.5",
"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,
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"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000584377.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.63C>T",
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"transcript": "ENST00000584672.1",
"protein_id": "ENSP00000462079.1",
"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": 401,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000584672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.1295C>T",
"hgvs_p": null,
"transcript": "NR_110578.2",
"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": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110578.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*469C>T",
"hgvs_p": null,
"transcript": "ENST00000269361.11",
"protein_id": "ENSP00000269361.7",
"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": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000269361.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*545C>T",
"hgvs_p": null,
"transcript": "ENST00000403276.7",
"protein_id": "ENSP00000385769.3",
"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": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000403276.7"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"hgvs_c": "n.*649C>T",
"hgvs_p": null,
"transcript": "ENST00000581241.6",
"protein_id": "ENSP00000521007.1",
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"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": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581241.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280407",
"gene_hgnc_id": null,
"hgvs_c": "n.-150G>A",
"hgvs_p": null,
"transcript": "ENST00000624920.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000624920.1"
}
],
"gene_symbol": "CSNK1D",
"gene_hgnc_id": 2452,
"dbsnp": "rs1435700605",
"frequency_reference_population": 0.0000080784075,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000823623,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.781,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001363749.2",
"gene_symbol": "CSNK1D",
"hgnc_id": 2452,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1155C>T",
"hgvs_p": "p.Asp385Asp"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000583025.1",
"gene_symbol": "SLC16A3",
"hgnc_id": 10924,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724+11024G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000624920.1",
"gene_symbol": "ENSG00000280407",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-150G>A",
"hgvs_p": null
}
],
"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
}