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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: 11-1753851-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1753851&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1753851,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001909.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys",
"transcript": "NM_001909.5",
"protein_id": "NP_001900.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 412,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000236671.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001909.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys",
"transcript": "ENST00000236671.7",
"protein_id": "ENSP00000236671.2",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 412,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001909.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236671.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"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": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys",
"transcript": "ENST00000636615.1",
"protein_id": "ENSP00000490014.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 557,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636615.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys",
"transcript": "ENST00000636397.1",
"protein_id": "ENSP00000489910.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 582,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636397.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1188G>A",
"hgvs_p": "p.Lys396Lys",
"transcript": "ENST00000962446.1",
"protein_id": "ENSP00000632505.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962446.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Lys380Lys",
"transcript": "ENST00000438213.6",
"protein_id": "ENSP00000415036.2",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 451,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438213.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1068G>A",
"hgvs_p": "p.Lys356Lys",
"transcript": "ENST00000962447.1",
"protein_id": "ENSP00000632506.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 427,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962447.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Lys339Lys",
"transcript": "ENST00000636843.1",
"protein_id": "ENSP00000490897.1",
"transcript_support_level": 5,
"aa_start": 339,
"aa_end": null,
"aa_length": 410,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636843.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Lys339Lys",
"transcript": "ENST00000916370.1",
"protein_id": "ENSP00000586429.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 410,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916370.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys",
"transcript": "ENST00000637915.1",
"protein_id": "ENSP00000490471.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 409,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637915.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Lys337Lys",
"transcript": "ENST00000962444.1",
"protein_id": "ENSP00000632503.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 408,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962444.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Lys335Lys",
"transcript": "ENST00000637815.2",
"protein_id": "ENSP00000490344.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 406,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637815.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1005G>A",
"hgvs_p": "p.Lys335Lys",
"transcript": "ENST00000962445.1",
"protein_id": "ENSP00000632504.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 406,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962445.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Lys334Lys",
"transcript": "ENST00000636571.1",
"protein_id": "ENSP00000490770.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 405,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636571.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Lys334Lys",
"transcript": "ENST00000637387.1",
"protein_id": "ENSP00000490598.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 405,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637387.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.972G>A",
"hgvs_p": "p.Lys324Lys",
"transcript": "ENST00000907824.1",
"protein_id": "ENSP00000577883.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 395,
"cds_start": 972,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907824.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Lys306Lys",
"transcript": "ENST00000367196.4",
"protein_id": "ENSP00000356164.4",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 377,
"cds_start": 918,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367196.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.918G>A",
"hgvs_p": "p.Lys306Lys",
"transcript": "ENST00000429746.2",
"protein_id": "ENSP00000402586.2",
"transcript_support_level": 3,
"aa_start": 306,
"aa_end": null,
"aa_length": 377,
"cds_start": 918,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429746.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.900G>A",
"hgvs_p": "p.Lys300Lys",
"transcript": "ENST00000907825.1",
"protein_id": "ENSP00000577884.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 371,
"cds_start": 900,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907825.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Lys149Lys",
"transcript": "ENST00000427721.3",
"protein_id": "ENSP00000415840.3",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 334,
"cds_start": 447,
"cds_end": null,
"cds_length": 1006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427721.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Lys242Lys",
"transcript": "ENST00000907826.1",
"protein_id": "ENSP00000577885.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 313,
"cds_start": 726,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907826.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.291G>A",
"hgvs_p": "p.Lys97Lys",
"transcript": "ENST00000907823.1",
"protein_id": "ENSP00000577882.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 168,
"cds_start": 291,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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"feature": "ENST00000497544.3"
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{
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{
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{
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{
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"non_coding_transcript_exon_variant"
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{
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"3_prime_UTR_variant"
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"feature": "ENST00000433655.6"
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{
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"3_prime_UTR_variant"
],
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"feature": "ENST00000678991.1"
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],
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"dbsnp": "rs111849172",
"frequency_reference_population": 0.000012316957,
"hom_count_reference_population": 1,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.000012317,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012000000104308128,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.47,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 17,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001909.5",
"gene_symbol": "CTSD",
"hgnc_id": 2529,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys"
},
{
"score": -11,
"benign_score": 13,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000636615.1",
"gene_symbol": "ENSG00000250644",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1023G>A",
"hgvs_p": "p.Lys341Lys"
}
],
"clinvar_disease": "Inborn genetic diseases,Neuronal ceroid lipofuscinosis,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Neuronal ceroid lipofuscinosis|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}