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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: 19-49710792-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49710792&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49710792,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001378482.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "NM_001199753.2",
"protein_id": "NP_001186682.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000598293.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199753.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000598293.6",
"protein_id": "ENSP00000473028.1",
"transcript_support_level": 2,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199753.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598293.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000323446.9",
"protein_id": "ENSP00000319343.4",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323446.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Thr590Ala",
"transcript": "ENST00000405931.6",
"protein_id": "ENSP00000384465.2",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 792,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405931.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "ENST00000595031.1",
"protein_id": "ENSP00000472579.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 336,
"cds_start": 667,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595031.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Thr623Ala",
"transcript": "NM_001378482.1",
"protein_id": "NP_001365411.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 825,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378482.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "NM_001199752.3",
"protein_id": "NP_001186681.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199752.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "NM_001378483.1",
"protein_id": "NP_001365412.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378483.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "NM_001378484.1",
"protein_id": "NP_001365413.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378484.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "NM_152359.3",
"protein_id": "NP_689572.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152359.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000392518.8",
"protein_id": "ENSP00000376303.4",
"transcript_support_level": 2,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392518.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000878766.1",
"protein_id": "ENSP00000548825.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878766.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000878767.1",
"protein_id": "ENSP00000548826.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878767.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000941224.1",
"protein_id": "ENSP00000611283.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941224.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000941225.1",
"protein_id": "ENSP00000611284.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 803,
"cds_start": 1801,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941225.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Thr590Ala",
"transcript": "NM_001136052.3",
"protein_id": "NP_001129524.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 792,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136052.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Thr590Ala",
"transcript": "NM_001378485.1",
"protein_id": "NP_001365414.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 792,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378485.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Thr590Ala",
"transcript": "ENST00000878763.1",
"protein_id": "ENSP00000548822.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 792,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878763.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Thr590Ala",
"transcript": "ENST00000929716.1",
"protein_id": "ENSP00000599775.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 792,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929716.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Thr588Ala",
"transcript": "ENST00000929714.1",
"protein_id": "ENSP00000599773.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 790,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929714.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1699A>G",
"hgvs_p": "p.Thr567Ala",
"transcript": "ENST00000878765.1",
"protein_id": "ENSP00000548824.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 769,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878765.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1699A>G",
"hgvs_p": "p.Thr567Ala",
"transcript": "ENST00000929712.1",
"protein_id": "ENSP00000599771.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 769,
"cds_start": 1699,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 20,
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"gene_symbol": "CPT1C",
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"transcript": "ENST00000598259.5",
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"biotype": "nonsense_mediated_decay",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 14,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.2245A>G",
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"transcript": "ENST00000599023.5",
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"biotype": "retained_intron",
"feature": "ENST00000599023.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
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"exon_count": 21,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.2271A>G",
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"transcript": "NR_108072.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_108072.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 20,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.*1715A>G",
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"transcript": "ENST00000598259.5",
"protein_id": "ENSP00000472742.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000598259.5"
},
{
"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": 12,
"intron_rank": null,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.*161A>G",
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"transcript": "ENST00000295404.9",
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"transcript_support_level": 2,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000295404.9"
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],
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"dbsnp": "rs774134053",
"frequency_reference_population": 0.000028502103,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.000028048,
"gnomad_genomes_af": 0.0000328653,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7486690282821655,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.822,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.093,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001378482.1",
"gene_symbol": "CPT1C",
"hgnc_id": 18540,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Thr623Ala"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 73",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary spastic paraplegia 73",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}