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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: 11-116830787-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116830787&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116830787,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000040.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "NM_000040.3",
"protein_id": "NP_000031.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 535,
"mane_select": "ENST00000227667.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000040.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000227667.8",
"protein_id": "ENSP00000227667.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 535,
"mane_select": "NM_000040.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227667.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Glu42Lys",
"transcript": "ENST00000630701.1",
"protein_id": "ENSP00000486182.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 117,
"cds_start": 124,
"cds_end": null,
"cds_length": 354,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630701.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Glu43Lys",
"transcript": "ENST00000863804.1",
"protein_id": "ENSP00000533863.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 118,
"cds_start": 127,
"cds_end": null,
"cds_length": 357,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863804.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Glu42Lys",
"transcript": "ENST00000375345.3",
"protein_id": "ENSP00000364494.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 117,
"cds_start": 124,
"cds_end": null,
"cds_length": 354,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375345.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863784.1",
"protein_id": "ENSP00000533843.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863784.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863785.1",
"protein_id": "ENSP00000533844.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863785.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863786.1",
"protein_id": "ENSP00000533845.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863786.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863787.1",
"protein_id": "ENSP00000533846.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863787.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863788.1",
"protein_id": "ENSP00000533847.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863788.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863789.1",
"protein_id": "ENSP00000533848.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863789.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863790.1",
"protein_id": "ENSP00000533849.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863790.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863791.1",
"protein_id": "ENSP00000533850.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863791.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863792.1",
"protein_id": "ENSP00000533851.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863792.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863793.1",
"protein_id": "ENSP00000533852.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863793.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863794.1",
"protein_id": "ENSP00000533853.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863794.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863795.1",
"protein_id": "ENSP00000533854.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863795.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863796.1",
"protein_id": "ENSP00000533855.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863796.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863798.1",
"protein_id": "ENSP00000533857.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863798.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863801.1",
"protein_id": "ENSP00000533860.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863801.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863802.1",
"protein_id": "ENSP00000533861.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863802.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys",
"transcript": "ENST00000863803.1",
"protein_id": "ENSP00000533862.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863803.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"gene_symbol": "APOC3",
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"aa_start": 24,
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"cdna_length": 512,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000863805.1"
},
{
"aa_ref": "E",
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"protein_coding": true,
"strand": true,
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],
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"cdna_start": 502,
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"biotype": "protein_coding",
"feature": "ENST00000863806.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC3",
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"hgvs_c": "c.67G>A",
"hgvs_p": "p.Glu23Lys",
"transcript": "ENST00000863800.1",
"protein_id": "ENSP00000533859.1",
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"aa_start": 23,
"aa_end": null,
"aa_length": 98,
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"cds_end": null,
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"cdna_start": 114,
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"cdna_length": 531,
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"biotype": "protein_coding",
"feature": "ENST00000863800.1"
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "APOC3",
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"hgvs_c": "c.61G>A",
"hgvs_p": "p.Glu21Lys",
"transcript": "ENST00000863797.1",
"protein_id": "ENSP00000533856.1",
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"aa_start": 21,
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"biotype": "protein_coding",
"feature": "ENST00000863797.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"gene_symbol": "APOC3",
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"transcript": "ENST00000863799.1",
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"biotype": "protein_coding",
"feature": "ENST00000863799.1"
},
{
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"missense_variant"
],
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"gene_symbol": "APOC3",
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"transcript": "ENST00000433777.5",
"protein_id": "ENSP00000410614.1",
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"biotype": "protein_coding",
"feature": "ENST00000433777.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "APOC3",
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"hgvs_c": "n.102G>A",
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"transcript": "ENST00000470144.1",
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"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 269,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470144.1"
}
],
"gene_symbol": "APOC3",
"gene_hgnc_id": 610,
"dbsnp": "rs963060587",
"frequency_reference_population": 0.000026692254,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000266923,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47999995946884155,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.1489,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000040.3",
"gene_symbol": "APOC3",
"hgnc_id": 610,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Glu24Lys"
}
],
"clinvar_disease": "Cardiovascular phenotype,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Cardiovascular phenotype|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}