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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: 11-1754122-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1754122&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1754122,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001909.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_001909.5",
"protein_id": "NP_001900.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 412,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000236671.7",
"protein_id": "ENSP00000236671.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 412,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000636615.1",
"protein_id": "ENSP00000490014.1",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 557,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000636397.1",
"protein_id": "ENSP00000489910.1",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 582,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Arg",
"transcript": "ENST00000962446.1",
"protein_id": "ENSP00000632505.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 467,
"cds_start": 1009,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Gly321Arg",
"transcript": "ENST00000438213.6",
"protein_id": "ENSP00000415036.2",
"transcript_support_level": 2,
"aa_start": 321,
"aa_end": null,
"aa_length": 451,
"cds_start": 961,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Gly297Arg",
"transcript": "ENST00000962447.1",
"protein_id": "ENSP00000632506.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 427,
"cds_start": 889,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Gly280Arg",
"transcript": "ENST00000636843.1",
"protein_id": "ENSP00000490897.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 410,
"cds_start": 838,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Gly280Arg",
"transcript": "ENST00000916370.1",
"protein_id": "ENSP00000586429.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 410,
"cds_start": 838,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000637915.1",
"protein_id": "ENSP00000490471.1",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 409,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Gly278Arg",
"transcript": "ENST00000962444.1",
"protein_id": "ENSP00000632503.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 408,
"cds_start": 832,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Gly276Arg",
"transcript": "ENST00000637815.2",
"protein_id": "ENSP00000490344.1",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 406,
"cds_start": 826,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000962445.1",
"protein_id": "ENSP00000632504.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 406,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"transcript": "ENST00000636571.1",
"protein_id": "ENSP00000490770.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 405,
"cds_start": 823,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000637387.1",
"protein_id": "ENSP00000490598.1",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 405,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000907824.1",
"protein_id": "ENSP00000577883.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 395,
"cds_start": 844,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000367196.4",
"protein_id": "ENSP00000356164.4",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 377,
"cds_start": 739,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.739G>A",
"hgvs_p": "p.Gly247Arg",
"transcript": "ENST00000429746.2",
"protein_id": "ENSP00000402586.2",
"transcript_support_level": 3,
"aa_start": 247,
"aa_end": null,
"aa_length": 377,
"cds_start": 739,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Arg",
"transcript": "ENST00000907825.1",
"protein_id": "ENSP00000577884.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 371,
"cds_start": 721,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000427721.3",
"protein_id": "ENSP00000415840.3",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 334,
"cds_start": 268,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.577-30G>A",
"hgvs_p": null,
"transcript": "ENST00000907826.1",
"protein_id": "ENSP00000577885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.142-30G>A",
"hgvs_p": null,
"transcript": "ENST00000907823.1",
"protein_id": "ENSP00000577882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"feature": "ENST00000637158.1"
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{
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{
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{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CTSD",
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{
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"feature": "ENST00000678991.1"
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{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000250644",
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"hgvs_c": "c.-248G>A",
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"transcript": "ENST00000636579.1",
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"biotype": "protein_coding",
"feature": "ENST00000636579.1"
}
],
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"dbsnp": "rs147278302",
"frequency_reference_population": 0.006786667,
"hom_count_reference_population": 108,
"allele_count_reference_population": 10925,
"gnomad_exomes_af": 0.00676588,
"gnomad_genomes_af": 0.00698557,
"gnomad_exomes_ac": 9861,
"gnomad_genomes_ac": 1064,
"gnomad_exomes_homalt": 100,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0025467276573181152,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.2091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.777,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001909.5",
"gene_symbol": "CTSD",
"hgnc_id": 2529,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000636615.1",
"gene_symbol": "ENSG00000250644",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 10,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:6",
"phenotype_combined": "not specified|not provided|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 10|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}