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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: 13-76996071-T-TTGATG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=76996071&ref=T&alt=TTGATG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 76996071,
"ref": "T",
"alt": "TTGATG",
"effect": "frameshift_variant",
"transcript": "ENST00000377453.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "NM_006493.4",
"protein_id": "NP_006484.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 358,
"cds_start": 515,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": "ENST00000377453.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000377453.9",
"protein_id": "ENSP00000366673.5",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 358,
"cds_start": 515,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": "NM_006493.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000636183.2",
"protein_id": "ENSP00000490181.2",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 358,
"cds_start": 515,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 6664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000638147.2",
"protein_id": "ENSP00000490953.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 201,
"cds_start": 515,
"cds_end": null,
"cds_length": 606,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.345_349dupTGATG",
"hgvs_p": "p.Asp117fs",
"transcript": "ENST00000636705.1",
"protein_id": "ENSP00000490937.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 303,
"cds_start": 350,
"cds_end": null,
"cds_length": 912,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000637397.2",
"protein_id": "ENSP00000490422.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 273,
"cds_start": 515,
"cds_end": null,
"cds_length": 822,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000636525.2",
"protein_id": "ENSP00000490078.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 270,
"cds_start": 515,
"cds_end": null,
"cds_length": 813,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000636767.2",
"protein_id": "ENSP00000489855.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 248,
"cds_start": 515,
"cds_end": null,
"cds_length": 747,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000616833.6",
"protein_id": "ENSP00000479547.3",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 207,
"cds_start": 515,
"cds_end": null,
"cds_length": 624,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "NM_001366624.2",
"protein_id": "NP_001353553.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 197,
"cds_start": 515,
"cds_end": null,
"cds_length": 594,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000636780.2",
"protein_id": "ENSP00000489809.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 197,
"cds_start": 515,
"cds_end": null,
"cds_length": 594,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000637537.2",
"protein_id": "ENSP00000489711.2",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 197,
"cds_start": 515,
"cds_end": null,
"cds_length": 594,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.510_514dupTGATG",
"hgvs_p": "p.Asp172fs",
"transcript": "ENST00000485938.4",
"protein_id": "ENSP00000482959.3",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 191,
"cds_start": 515,
"cds_end": null,
"cds_length": 576,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.114_118dupTGATG",
"hgvs_p": "p.Asp40fs",
"transcript": "ENST00000638101.1",
"protein_id": "ENSP00000490535.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 75,
"cds_start": 119,
"cds_end": null,
"cds_length": 228,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "VM?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.117_121dupTGATG",
"hgvs_p": "p.Asp41fs",
"transcript": "ENST00000635838.1",
"protein_id": "ENSP00000490835.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 70,
"cds_start": 122,
"cds_end": null,
"cds_length": 213,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.511_515dupTGATG",
"hgvs_p": null,
"transcript": "ENST00000635905.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*131_*135dupTGATG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.577_581dupTGATG",
"hgvs_p": null,
"transcript": "ENST00000635989.1",
"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": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.2022_2026dupTGATG",
"hgvs_p": null,
"transcript": "ENST00000636520.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 5889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.456_460dupTGATG",
"hgvs_p": null,
"transcript": "ENST00000636602.1",
"protein_id": null,
"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": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*201_*205dupTGATG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.156_160dupTGATG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN5",
"gene_hgnc_id": 2076,
"hgvs_c": "n.836_840dupTGATG",
"hgvs_p": null,
"transcript": "ENST00000637278.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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],
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}
],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 0.459,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000377453.9",
"gene_symbol": "CLN5",
"hgnc_id": 2076,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.510_514dupTGATG",
"hgvs_p": "p.Asp172fs"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000638147.2",
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.510_514dupTGATG",
"hgvs_p": "p.Asp172fs"
},
{
"score": 10,
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"pathogenic_score": 10,
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000485797.2",
"gene_symbol": "FBXL3",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.174-3125_174-3121dupCATCA",
"hgvs_p": null
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis 5",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis 5",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}