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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: 16-28477548-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28477548&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28477548,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042432.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser",
"transcript": "NM_001042432.2",
"protein_id": "NP_001035897.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 438,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "ENST00000636147.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser",
"transcript": "ENST00000636147.2",
"protein_id": "ENSP00000490105.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 438,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "NM_001042432.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser",
"transcript": "ENST00000359984.12",
"protein_id": "ENSP00000353073.9",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 438,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Pro412Ser",
"transcript": "ENST00000565316.6",
"protein_id": "ENSP00000456117.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 421,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Pro381Ser",
"transcript": "ENST00000355477.10",
"protein_id": "ENSP00000347660.7",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 390,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Pro330Ser",
"transcript": "ENST00000357806.11",
"protein_id": "ENSP00000350457.7",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 339,
"cds_start": 988,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Pro327Ser",
"transcript": "ENST00000636228.1",
"protein_id": "ENSP00000489627.1",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 336,
"cds_start": 979,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1224,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.*581C>T",
"hgvs_p": null,
"transcript": "ENST00000566057.5",
"protein_id": "ENSP00000456693.1",
"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": 931,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261832",
"gene_hgnc_id": null,
"hgvs_c": "n.1051C>T",
"hgvs_p": null,
"transcript": "ENST00000568224.4",
"protein_id": "ENSP00000454253.1",
"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": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.*581C>T",
"hgvs_p": null,
"transcript": "ENST00000566057.5",
"protein_id": "ENSP00000456693.1",
"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": 931,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261832",
"gene_hgnc_id": null,
"hgvs_c": "c.228+4557C>T",
"hgvs_p": null,
"transcript": "ENST00000637378.1",
"protein_id": "ENSP00000490831.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser",
"transcript": "NM_000086.2",
"protein_id": "NP_000077.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 438,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser",
"transcript": "ENST00000569430.7",
"protein_id": "ENSP00000454229.1",
"transcript_support_level": 5,
"aa_start": 429,
"aa_end": null,
"aa_length": 438,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Pro405Ser",
"transcript": "NM_001286104.2",
"protein_id": "NP_001273033.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 414,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Pro405Ser",
"transcript": "ENST00000333496.14",
"protein_id": "ENSP00000329171.9",
"transcript_support_level": 5,
"aa_start": 405,
"aa_end": null,
"aa_length": 414,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1213C>T",
"hgvs_p": "p.Pro405Ser",
"transcript": "ENST00000360019.8",
"protein_id": "ENSP00000353116.3",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 414,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "NM_001286110.2",
"protein_id": "NP_001273039.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 384,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "ENST00000357857.14",
"protein_id": "ENSP00000350523.9",
"transcript_support_level": 2,
"aa_start": 375,
"aa_end": null,
"aa_length": 384,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Pro375Ser",
"transcript": "ENST00000567963.6",
"protein_id": "ENSP00000455387.2",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 384,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Pro351Ser",
"transcript": "NM_001286109.2",
"protein_id": "NP_001273038.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 360,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Pro329Ser",
"transcript": "NM_001286105.2",
"protein_id": "NP_001273034.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 338,
"cds_start": 985,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Pro276Ser",
"transcript": "ENST00000395653.9",
"protein_id": "ENSP00000379014.5",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 285,
"cds_start": 826,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1430,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"hgvs_c": "n.1698C>T",
"hgvs_p": null,
"transcript": "ENST00000561689.6",
"protein_id": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN3",
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"hgvs_c": "n.*983C>T",
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"transcript": "ENST00000637871.1",
"protein_id": "ENSP00000490670.1",
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"aa_end": null,
"aa_length": null,
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"cdna_length": 1606,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 13,
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"gene_symbol": "CLN3",
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"hgvs_c": "c.1006-3286C>T",
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"transcript": "ENST00000637100.1",
"protein_id": "ENSP00000490394.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
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"cdna_length": 1284,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "CLN3",
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"hgvs_c": "n.*242C>T",
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"transcript": "ENST00000566824.6",
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"aa_end": null,
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"cds_end": null,
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"cdna_length": 1326,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CLN3",
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"hgvs_c": "n.*9C>T",
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"transcript": "ENST00000636853.1",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_end": null,
"cdna_length": 2289,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CLN3",
"gene_hgnc_id": 2074,
"dbsnp": "rs1433950864",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9242120981216431,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.824,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.462,
"phylop100way_prediction": "Uncertain_significance",
"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_001042432.2",
"gene_symbol": "CLN3",
"hgnc_id": 2074,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Pro429Ser"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000637378.1",
"gene_symbol": "ENSG00000261832",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.228+4557C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis,Neuronal ceroid lipofuscinosis 3,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}