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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: 15-68209768-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68209768&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 68209768,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000249806.11",
"consequences": [
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.543-9C>T",
"hgvs_p": null,
"transcript": "NM_017882.3",
"protein_id": "NP_060352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": "ENST00000249806.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.543-9C>T",
"hgvs_p": null,
"transcript": "ENST00000249806.11",
"protein_id": "ENSP00000249806.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": "NM_017882.3",
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.444-9C>T",
"hgvs_p": null,
"transcript": "ENST00000637667.1",
"protein_id": "ENSP00000489843.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 874,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.354-9C>T",
"hgvs_p": null,
"transcript": "ENST00000566347.5",
"protein_id": "ENSP00000457783.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "c.84-12140C>T",
"hgvs_p": null,
"transcript": "ENST00000562767.2",
"protein_id": "ENSP00000456336.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*146-9C>T",
"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": 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": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.639-9C>T",
"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,
"cdna_end": null,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.639-9C>T",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.255-9C>T",
"hgvs_p": null,
"transcript": "ENST00000637494.1",
"protein_id": "ENSP00000490057.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 765,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.569-9C>T",
"hgvs_p": null,
"transcript": "ENST00000564752.1",
"protein_id": "ENSP00000457822.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 900,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.84-9C>T",
"hgvs_p": null,
"transcript": "ENST00000565471.6",
"protein_id": "ENSP00000457384.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.239-9C>T",
"hgvs_p": null,
"transcript": "ENST00000636314.1",
"protein_id": "ENSP00000490295.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 103,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.385-9C>T",
"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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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.298-48C>T",
"hgvs_p": null,
"transcript": "ENST00000567060.5",
"protein_id": "ENSP00000454818.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*446-9C>T",
"hgvs_p": null,
"transcript": "ENST00000635747.1",
"protein_id": "ENSP00000490627.1",
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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": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*213-9C>T",
"hgvs_p": null,
"transcript": "ENST00000636212.1",
"protein_id": "ENSP00000489851.1",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "CLN6",
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"hgvs_c": "n.1645-9C>T",
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"transcript": "ENST00000636674.1",
"protein_id": null,
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"feature": null
},
{
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"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.2071-9C>T",
"hgvs_p": null,
"transcript": "ENST00000636964.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "n.198+8768C>T",
"hgvs_p": null,
"transcript": "ENST00000637054.1",
"protein_id": "ENSP00000490807.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN6",
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"hgvs_c": "n.*257-9C>T",
"hgvs_p": null,
"transcript": "ENST00000637223.1",
"protein_id": "ENSP00000490010.1",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*253-9C>T",
"hgvs_p": null,
"transcript": "ENST00000637329.1",
"protein_id": "ENSP00000489649.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*197-9C>T",
"hgvs_p": null,
"transcript": "ENST00000637450.1",
"protein_id": "ENSP00000490204.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": 5,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*139-9C>T",
"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,
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"cdna_start": null,
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"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "ENSG00000260007",
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"hgvs_c": "n.198+8768C>T",
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"transcript": "ENST00000637888.1",
"protein_id": "ENSP00000490546.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2941,
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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"
],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "CLN6",
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"hgvs_c": "n.186-9C>T",
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"transcript": "ENST00000638144.1",
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"cds_start": -4,
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"cdna_length": 576,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000260007",
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"hgvs_c": "n.36+8768C>T",
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"transcript": "ENST00000646164.1",
"protein_id": "ENSP00000495436.1",
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"cds_start": -4,
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"cdna_length": 279,
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"dbsnp": "rs374653673",
"frequency_reference_population": 0.000008681212,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000890132,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.368,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000123771543106355,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000249806.11",
"gene_symbol": "CLN6",
"hgnc_id": 2077,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.543-9C>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000562767.2",
"gene_symbol": "ENSG00000260007",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.84-12140C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}