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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: 19-49708797-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49708797&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49708797,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001378482.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "NM_001199753.2",
"protein_id": "NP_001186682.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000598293.6",
"protein_id": "ENSP00000473028.1",
"transcript_support_level": 2,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000323446.9",
"protein_id": "ENSP00000319343.4",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1491A>G",
"hgvs_p": "p.Thr497Thr",
"transcript": "ENST00000405931.6",
"protein_id": "ENSP00000384465.2",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 792,
"cds_start": 1491,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.390A>G",
"hgvs_p": "p.Thr130Thr",
"transcript": "ENST00000595031.1",
"protein_id": "ENSP00000472579.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 336,
"cds_start": 390,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1590A>G",
"hgvs_p": "p.Thr530Thr",
"transcript": "NM_001378482.1",
"protein_id": "NP_001365411.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 825,
"cds_start": 1590,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "NM_001199752.3",
"protein_id": "NP_001186681.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "NM_001378483.1",
"protein_id": "NP_001365412.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "NM_001378484.1",
"protein_id": "NP_001365413.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "NM_152359.3",
"protein_id": "NP_689572.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000392518.8",
"protein_id": "ENSP00000376303.4",
"transcript_support_level": 2,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000878766.1",
"protein_id": "ENSP00000548825.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000878767.1",
"protein_id": "ENSP00000548826.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000941224.1",
"protein_id": "ENSP00000611283.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1524A>G",
"hgvs_p": "p.Thr508Thr",
"transcript": "ENST00000941225.1",
"protein_id": "ENSP00000611284.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 803,
"cds_start": 1524,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1491A>G",
"hgvs_p": "p.Thr497Thr",
"transcript": "NM_001136052.3",
"protein_id": "NP_001129524.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 792,
"cds_start": 1491,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1491A>G",
"hgvs_p": "p.Thr497Thr",
"transcript": "NM_001378485.1",
"protein_id": "NP_001365414.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 792,
"cds_start": 1491,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1491A>G",
"hgvs_p": "p.Thr497Thr",
"transcript": "ENST00000878763.1",
"protein_id": "ENSP00000548822.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 792,
"cds_start": 1491,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1491A>G",
"hgvs_p": "p.Thr497Thr",
"transcript": "ENST00000929716.1",
"protein_id": "ENSP00000599775.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 792,
"cds_start": 1491,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1485A>G",
"hgvs_p": "p.Thr495Thr",
"transcript": "ENST00000929714.1",
"protein_id": "ENSP00000599773.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 790,
"cds_start": 1485,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1422A>G",
"hgvs_p": "p.Thr474Thr",
"transcript": "ENST00000878765.1",
"protein_id": "ENSP00000548824.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 769,
"cds_start": 1422,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1422A>G",
"hgvs_p": "p.Thr474Thr",
"transcript": "ENST00000929712.1",
"protein_id": "ENSP00000599771.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 8,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.884A>G",
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"transcript": "ENST00000596701.1",
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.*1438A>G",
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"transcript": "ENST00000598259.5",
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"cdna_start": null,
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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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.1730A>G",
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"transcript": "ENST00000599023.5",
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"biotype": "retained_intron",
"feature": "ENST00000599023.5"
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
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"exon_rank": 15,
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"exon_count": 21,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.1994A>G",
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"transcript": "NR_108072.2",
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"biotype": "pseudogene",
"feature": "NR_108072.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 20,
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"gene_symbol": "CPT1C",
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"hgvs_c": "n.*1438A>G",
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"transcript": "ENST00000598259.5",
"protein_id": "ENSP00000472742.1",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000598259.5"
}
],
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"dbsnp": "rs181225621",
"frequency_reference_population": 0.0017758753,
"hom_count_reference_population": 77,
"allele_count_reference_population": 2866,
"gnomad_exomes_af": 0.00164399,
"gnomad_genomes_af": 0.00304273,
"gnomad_exomes_ac": 2403,
"gnomad_genomes_ac": 463,
"gnomad_exomes_homalt": 66,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.286,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001378482.1",
"gene_symbol": "CPT1C",
"hgnc_id": 18540,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1590A>G",
"hgvs_p": "p.Thr530Thr"
}
],
"clinvar_disease": "CPT1C-related disorder,Hereditary spastic paraplegia 73,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Hereditary spastic paraplegia 73|CPT1C-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}