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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: 13-76996067-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=76996067&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 76996067,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006493.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "NM_006493.4",
"protein_id": "NP_006484.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 358,
"cds_start": 505,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377453.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006493.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000377453.9",
"protein_id": "ENSP00000366673.5",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 358,
"cds_start": 505,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006493.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377453.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000636183.2",
"protein_id": "ENSP00000490181.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 358,
"cds_start": 505,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636183.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000638147.2",
"protein_id": "ENSP00000490953.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 201,
"cds_start": 505,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638147.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Gly114Arg",
"transcript": "ENST00000636705.1",
"protein_id": "ENSP00000490937.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 303,
"cds_start": 340,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636705.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000637397.2",
"protein_id": "ENSP00000490422.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 273,
"cds_start": 505,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637397.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000636525.2",
"protein_id": "ENSP00000490078.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 270,
"cds_start": 505,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636525.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000636767.2",
"protein_id": "ENSP00000489855.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 248,
"cds_start": 505,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636767.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000616833.6",
"protein_id": "ENSP00000479547.3",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 207,
"cds_start": 505,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616833.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "NM_001366624.2",
"protein_id": "NP_001353553.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 197,
"cds_start": 505,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366624.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000636780.2",
"protein_id": "ENSP00000489809.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 197,
"cds_start": 505,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636780.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000637537.2",
"protein_id": "ENSP00000489711.2",
"transcript_support_level": 4,
"aa_start": 169,
"aa_end": null,
"aa_length": 197,
"cds_start": 505,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637537.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "ENST00000485938.4",
"protein_id": "ENSP00000482959.3",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 191,
"cds_start": 505,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485938.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"transcript": "ENST00000638101.1",
"protein_id": "ENSP00000490535.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 75,
"cds_start": 109,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638101.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.112G>A",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000635838.1",
"protein_id": "ENSP00000490835.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 70,
"cds_start": 112,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.506G>A",
"hgvs_p": null,
"transcript": "ENST00000635905.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000635905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.*126G>A",
"hgvs_p": null,
"transcript": "ENST00000635915.1",
"protein_id": "ENSP00000490560.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.572G>A",
"hgvs_p": null,
"transcript": "ENST00000635989.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000635989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.2017G>A",
"hgvs_p": null,
"transcript": "ENST00000636520.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000636520.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.451G>A",
"hgvs_p": null,
"transcript": "ENST00000636602.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000636602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.*196G>A",
"hgvs_p": null,
"transcript": "ENST00000636681.1",
"protein_id": "ENSP00000489922.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "n.151G>A",
"hgvs_p": null,
"transcript": "ENST00000637192.1",
"protein_id": "ENSP00000489931.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CLN5",
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"hgvs_c": "n.831G>A",
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"transcript": "ENST00000637278.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000637278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "CLN5",
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"hgvs_c": "n.*126G>A",
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"transcript": "ENST00000635915.1",
"protein_id": "ENSP00000490560.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635915.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.*196G>A",
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"transcript": "ENST00000636681.1",
"protein_id": "ENSP00000489922.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636681.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBXL3",
"gene_hgnc_id": 13599,
"hgvs_c": "n.174-3116C>T",
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"transcript": "ENST00000485797.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485797.2"
}
],
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"dbsnp": "rs1420822940",
"frequency_reference_population": 0.000001239185,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": 0.00000657557,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8472696542739868,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.829,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7666,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.149,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006493.4",
"gene_symbol": "CLN5",
"hgnc_id": 2076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000638147.2",
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000485797.2",
"gene_symbol": "FBXL3",
"hgnc_id": 13599,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.174-3116C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}