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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: 15-68229536-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68229536&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 68229536,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000249806.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "NM_017882.3",
"protein_id": "NP_060352.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 311,
"cds_start": 49,
"cds_end": null,
"cds_length": 936,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": "ENST00000249806.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000249806.11",
"protein_id": "ENSP00000249806.5",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 311,
"cds_start": 49,
"cds_end": null,
"cds_length": 936,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": "NM_017882.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000637667.1",
"protein_id": "ENSP00000489843.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 250,
"cds_start": 49,
"cds_end": null,
"cds_length": 755,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000566347.5",
"protein_id": "ENSP00000457783.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 248,
"cds_start": 49,
"cds_end": null,
"cds_length": 747,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000562767.2",
"protein_id": "ENSP00000456336.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 92,
"cds_start": 49,
"cds_end": null,
"cds_length": 279,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.49G>A",
"hgvs_p": null,
"transcript": "ENST00000638076.1",
"protein_id": "ENSP00000490373.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000637494.1",
"protein_id": "ENSP00000490057.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 215,
"cds_start": 49,
"cds_end": null,
"cds_length": 648,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000564752.1",
"protein_id": "ENSP00000457822.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 213,
"cds_start": 49,
"cds_end": null,
"cds_length": 642,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000565471.6",
"protein_id": "ENSP00000457384.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 158,
"cds_start": 49,
"cds_end": null,
"cds_length": 477,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000636314.1",
"protein_id": "ENSP00000490295.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 103,
"cds_start": 49,
"cds_end": null,
"cds_length": 312,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.49G>A",
"hgvs_p": null,
"transcript": "ENST00000567060.5",
"protein_id": "ENSP00000454818.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.181G>A",
"hgvs_p": null,
"transcript": "ENST00000636020.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.49G>A",
"hgvs_p": null,
"transcript": "ENST00000636212.1",
"protein_id": "ENSP00000489851.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "n.49G>A",
"hgvs_p": null,
"transcript": "ENST00000637054.1",
"protein_id": "ENSP00000490807.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": 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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.49G>A",
"hgvs_p": null,
"transcript": "ENST00000637450.1",
"protein_id": "ENSP00000490204.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "n.49G>A",
"hgvs_p": null,
"transcript": "ENST00000637888.1",
"protein_id": "ENSP00000490546.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.180-10886G>A",
"hgvs_p": null,
"transcript": "NM_001411068.1",
"protein_id": "NP_001397997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
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"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.180-10886G>A",
"hgvs_p": null,
"transcript": "ENST00000538696.5",
"protein_id": "ENSP00000445770.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.41-15148G>A",
"hgvs_p": null,
"transcript": "ENST00000563917.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 557,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.516-10886G>A",
"hgvs_p": null,
"transcript": "ENST00000564846.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.173-10886G>A",
"hgvs_p": null,
"transcript": "ENST00000635747.1",
"protein_id": "ENSP00000490627.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*104-10886G>A",
"hgvs_p": null,
"transcript": "ENST00000636876.1",
"protein_id": "ENSP00000489950.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.173-10886G>A",
"hgvs_p": null,
"transcript": "ENST00000637223.1",
"protein_id": "ENSP00000490010.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.31-15148G>A",
"hgvs_p": null,
"transcript": "ENST00000638144.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000637823.1",
"protein_id": "ENSP00000490011.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"dbsnp": "rs763944821",
"frequency_reference_population": 0.00022004073,
"hom_count_reference_population": 9,
"allele_count_reference_population": 323,
"gnomad_exomes_af": 0.000230273,
"gnomad_genomes_af": 0.000131508,
"gnomad_exomes_ac": 303,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0140744149684906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.535,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1046,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.996,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000249806.11",
"gene_symbol": "CLN6",
"hgnc_id": 2077,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000562767.2",
"gene_symbol": "ENSG00000260007",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser"
}
],
"clinvar_disease": " 6A, neuronal,Ceroid lipofuscinosis,Inborn genetic diseases,Neuronal ceroid lipofuscinosis,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1 B:1",
"phenotype_combined": "not provided|Ceroid lipofuscinosis, neuronal, 6A|Neuronal ceroid lipofuscinosis|not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}