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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: 12-53159938-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53159938&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53159938,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_015989.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "NM_001244705.2",
"protein_id": "NP_001231634.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444623.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244705.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000444623.6",
"protein_id": "ENSP00000415485.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244705.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444623.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Arg416Arg",
"transcript": "ENST00000267085.8",
"protein_id": "ENSP00000267085.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 520,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267085.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000453446.6",
"protein_id": "ENSP00000410648.2",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453446.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Arg452Arg",
"transcript": "ENST00000943689.1",
"protein_id": "ENSP00000613748.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 556,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943689.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Arg420Arg",
"transcript": "ENST00000885699.1",
"protein_id": "ENSP00000555758.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 524,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885699.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Arg416Arg",
"transcript": "NM_015989.5",
"protein_id": "NP_057073.4",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 520,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015989.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1242G>A",
"hgvs_p": "p.Arg414Arg",
"transcript": "ENST00000379850.7",
"protein_id": "ENSP00000369179.3",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 518,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379850.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885695.1",
"protein_id": "ENSP00000555754.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885695.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885696.1",
"protein_id": "ENSP00000555755.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885696.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885697.1",
"protein_id": "ENSP00000555756.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885697.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885698.1",
"protein_id": "ENSP00000555757.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885698.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885700.1",
"protein_id": "ENSP00000555759.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885700.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885701.1",
"protein_id": "ENSP00000555760.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885701.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000885702.1",
"protein_id": "ENSP00000555761.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885702.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000943678.1",
"protein_id": "ENSP00000613737.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943678.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000943679.1",
"protein_id": "ENSP00000613738.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943679.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000943680.1",
"protein_id": "ENSP00000613739.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943680.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000943681.1",
"protein_id": "ENSP00000613740.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943681.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000943685.1",
"protein_id": "ENSP00000613744.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943685.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSAD",
"gene_hgnc_id": 18966,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000943686.1",
"protein_id": "ENSP00000613745.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 493,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943686.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
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"biotype": "nonsense_mediated_decay",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "CSAD",
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"hgvs_c": "n.810G>A",
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"transcript": "ENST00000490923.5",
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"biotype": "retained_intron",
"feature": "ENST00000490923.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"gene_symbol": "ENSG00000257808",
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"hgvs_c": "n.59C>T",
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"transcript": "ENST00000550908.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000550908.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 14,
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"gene_symbol": "CSAD",
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"transcript": "ENST00000475890.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475890.5"
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],
"gene_symbol": "CSAD",
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"dbsnp": "rs745653871",
"frequency_reference_population": 0.000024280065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000254451,
"gnomad_genomes_af": 0.0000131454,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.108,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000901690097515421,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015989.5",
"gene_symbol": "CSAD",
"hgnc_id": 18966,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Arg416Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000550908.1",
"gene_symbol": "ENSG00000257808",
"hgnc_id": 58448,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.59C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}