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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: 11-117293130-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117293130&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117293130,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012104.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "NM_012104.6",
"protein_id": "NP_036236.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 501,
"cds_start": 764,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313005.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012104.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000313005.11",
"protein_id": "ENSP00000318585.6",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 501,
"cds_start": 764,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012104.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313005.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230Gln",
"transcript": "ENST00000513780.5",
"protein_id": "ENSP00000424536.1",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 476,
"cds_start": 689,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513780.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "ENST00000445823.6",
"protein_id": "ENSP00000403685.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 457,
"cds_start": 632,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445823.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.557G>A",
"hgvs_p": "p.Arg186Gln",
"transcript": "ENST00000428381.6",
"protein_id": "ENSP00000402228.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 432,
"cds_start": 557,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428381.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "ENST00000392937.10",
"protein_id": "ENSP00000475405.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 401,
"cds_start": 464,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392937.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230Gln",
"transcript": "NM_138972.4",
"protein_id": "NP_620428.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 476,
"cds_start": 689,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138972.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000528053.5",
"protein_id": "ENSP00000431848.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 467,
"cds_start": 764,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528053.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "NM_138971.4",
"protein_id": "NP_620427.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 457,
"cds_start": 632,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138971.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209Gln",
"transcript": "ENST00000896512.1",
"protein_id": "ENSP00000566571.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 455,
"cds_start": 626,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896512.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.557G>A",
"hgvs_p": "p.Arg186Gln",
"transcript": "NM_138973.4",
"protein_id": "NP_620429.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 432,
"cds_start": 557,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138973.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "NM_001207048.3",
"protein_id": "NP_001193977.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 401,
"cds_start": 464,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207048.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130Gln",
"transcript": "NM_001207049.3",
"protein_id": "NP_001193978.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 376,
"cds_start": 389,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207049.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130Gln",
"transcript": "ENST00000510630.5",
"protein_id": "ENSP00000422461.1",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 376,
"cds_start": 389,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510630.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "ENST00000510915.6",
"protein_id": "ENSP00000475171.2",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 351,
"cds_start": 464,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510915.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "ENST00000680681.1",
"protein_id": "ENSP00000505419.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 333,
"cds_start": 464,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680681.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"transcript": "NM_001411039.1",
"protein_id": "NP_001397968.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 267,
"cds_start": 62,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411039.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21Gln",
"transcript": "ENST00000680971.1",
"protein_id": "ENSP00000506107.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 267,
"cds_start": 62,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680971.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.705+741G>A",
"hgvs_p": null,
"transcript": "ENST00000927849.1",
"protein_id": "ENSP00000597908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.*192G>A",
"hgvs_p": null,
"transcript": "ENST00000514464.2",
"protein_id": "ENSP00000505118.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000514464.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.630G>A",
"hgvs_p": null,
"transcript": "ENST00000530824.1",
"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": "ENST00000530824.1"
},
{
"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": "BACE1-AS",
"gene_hgnc_id": 37125,
"hgvs_c": "n.304C>T",
"hgvs_p": null,
"transcript": "ENST00000614401.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000614401.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1-AS",
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"hgvs_c": "n.4239C>T",
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"transcript": "ENST00000649580.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000649580.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
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"transcript": "ENST00000679585.1",
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679585.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
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"hgvs_c": "n.552G>A",
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"transcript": "ENST00000680271.1",
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"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": "ENST00000680271.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.570G>A",
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"transcript": "ENST00000680800.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000680800.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
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"intron_rank_end": null,
"gene_symbol": "BACE1-AS",
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"hgvs_c": "n.3208C>T",
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"transcript": "ENST00000717907.1",
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000717907.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
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"hgvs_c": "n.*192G>A",
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"transcript": "ENST00000514464.2",
"protein_id": "ENSP00000505118.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000514464.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
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"hgvs_c": "n.-71G>A",
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"transcript": "ENST00000681714.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000681714.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.-71G>A",
"hgvs_p": null,
"transcript": "ENST00000681753.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000681753.1"
}
],
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"dbsnp": "rs775880264",
"frequency_reference_population": 0.000016417822,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000164178,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3482988178730011,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.2719,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.527,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_012104.6",
"gene_symbol": "BACE1",
"hgnc_id": 933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000614401.1",
"gene_symbol": "BACE1-AS",
"hgnc_id": 37125,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.304C>T",
"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
}