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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: 17-58525722-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58525722&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58525722,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001368771.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.Arg689Trp",
"transcript": "NM_001368771.2",
"protein_id": "NP_001355700.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 996,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368771.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.Arg689Trp",
"transcript": "ENST00000672673.2",
"protein_id": "ENSP00000500383.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 996,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368771.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672673.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000317268.7",
"protein_id": "ENSP00000321674.3",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 478,
"cds_start": 511,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317268.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000317256.10",
"protein_id": "ENSP00000321071.6",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 459,
"cds_start": 454,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317256.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000426861.5",
"protein_id": "ENSP00000402348.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 274,
"cds_start": 454,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426861.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Trp",
"transcript": "ENST00000580809.5",
"protein_id": "ENSP00000464382.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 175,
"cds_start": 157,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "n.650C>T",
"hgvs_p": null,
"transcript": "ENST00000584488.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000584488.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_001256782.2",
"protein_id": "NP_001243711.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 493,
"cds_start": 556,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256782.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000457347.6",
"protein_id": "ENSP00000402000.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 493,
"cds_start": 556,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457347.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000672699.1",
"protein_id": "ENSP00000500355.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 493,
"cds_start": 556,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672699.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "NM_004574.5",
"protein_id": "NP_004565.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 478,
"cds_start": 511,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004574.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "NM_001368772.2",
"protein_id": "NP_001355701.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 471,
"cds_start": 490,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368772.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Arg163Trp",
"transcript": "NM_001198713.2",
"protein_id": "NP_001185642.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 470,
"cds_start": 487,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198713.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Arg163Trp",
"transcript": "ENST00000412945.7",
"protein_id": "ENSP00000414779.3",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 470,
"cds_start": 487,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412945.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_080416.4",
"protein_id": "NP_536341.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 459,
"cds_start": 454,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080416.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "ENST00000393086.5",
"protein_id": "ENSP00000376801.1",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 459,
"cds_start": 454,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393086.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "NM_001363803.2",
"protein_id": "NP_001350732.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 379,
"cds_start": 214,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363803.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000580844.5",
"protein_id": "ENSP00000462727.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 379,
"cds_start": 214,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580844.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000579371.5",
"protein_id": "ENSP00000464373.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 332,
"cds_start": 214,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579371.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "NM_001256822.2",
"protein_id": "NP_001243751.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 331,
"cds_start": 70,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256822.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "ENST00000583114.5",
"protein_id": "ENSP00000463768.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 331,
"cds_start": 70,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583114.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.454C>T",
"hgvs_p": "p.Arg152Trp",
"transcript": "NM_080415.4",
"protein_id": "NP_536340.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 274,
"cds_start": 454,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080415.4"
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"biotype": "pseudogene",
"feature": "ENST00000740050.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "NR_037155.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "n.653C>T",
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"transcript": "NR_104196.2",
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"biotype": "pseudogene",
"feature": "NR_104196.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
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"gene_symbol": "SEPTIN4",
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"biotype": "pseudogene",
"feature": "NR_104197.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "SEPTIN4-AS1",
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"transcript": "NR_110810.1",
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"feature": "NR_110810.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 6,
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "n.*93C>T",
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"transcript": "ENST00000578131.5",
"protein_id": "ENSP00000462362.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578131.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "n.*93C>T",
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"transcript": "ENST00000581615.5",
"protein_id": "ENSP00000462278.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581615.5"
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],
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"dbsnp": "rs201949343",
"frequency_reference_population": 0.000067536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000649869,
"gnomad_genomes_af": 0.0000920314,
"gnomad_exomes_ac": 95,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4161384701728821,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.2679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.695,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001368771.2",
"gene_symbol": "SEPTIN4",
"hgnc_id": 9165,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2065C>T",
"hgvs_p": "p.Arg689Trp"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000578022.2",
"gene_symbol": "SEPTIN4-AS1",
"hgnc_id": 51345,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.263G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}