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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: 19-44948823-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44948823&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44948823,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000483.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "NM_000483.5",
"protein_id": "NP_000474.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252490.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000483.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000252490.7",
"protein_id": "ENSP00000252490.5",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000483.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252490.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"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": "APOC4-APOC2",
"gene_hgnc_id": 44426,
"hgvs_c": "c.409G>C",
"hgvs_p": "p.Glu137Gln",
"transcript": "ENST00000589057.5",
"protein_id": "ENSP00000468139.1",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 178,
"cds_start": 409,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589057.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896555.1",
"protein_id": "ENSP00000566614.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 116,
"cds_start": 178,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896555.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Glu72Gln",
"transcript": "ENST00000896546.1",
"protein_id": "ENSP00000566605.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 113,
"cds_start": 214,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896546.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Glu72Gln",
"transcript": "ENST00000896548.1",
"protein_id": "ENSP00000566607.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 113,
"cds_start": 214,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896548.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Glu72Gln",
"transcript": "ENST00000896558.1",
"protein_id": "ENSP00000566617.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 113,
"cds_start": 214,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896558.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.214G>C",
"hgvs_p": "p.Glu72Gln",
"transcript": "ENST00000896559.1",
"protein_id": "ENSP00000566618.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 113,
"cds_start": 214,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896559.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000590360.2",
"protein_id": "ENSP00000466775.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590360.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896547.1",
"protein_id": "ENSP00000566606.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896547.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896549.1",
"protein_id": "ENSP00000566608.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896549.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896553.1",
"protein_id": "ENSP00000566612.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896553.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896554.1",
"protein_id": "ENSP00000566613.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896554.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896557.1",
"protein_id": "ENSP00000566616.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896557.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896560.1",
"protein_id": "ENSP00000566619.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896560.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000968228.1",
"protein_id": "ENSP00000638287.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 101,
"cds_start": 178,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968228.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000896550.1",
"protein_id": "ENSP00000566609.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 97,
"cds_start": 178,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896550.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln",
"transcript": "ENST00000585786.1",
"protein_id": "ENSP00000465001.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 72,
"cds_start": 178,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585786.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.116G>C",
"hgvs_p": "p.Arg39Pro",
"transcript": "ENST00000592257.5",
"protein_id": "ENSP00000477261.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 47,
"cds_start": 116,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592257.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.209+5G>C",
"hgvs_p": null,
"transcript": "ENST00000896551.1",
"protein_id": "ENSP00000566610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.173+5G>C",
"hgvs_p": null,
"transcript": "ENST00000591597.5",
"protein_id": "ENSP00000476835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "APOC2",
"gene_hgnc_id": 609,
"hgvs_c": "c.173+5G>C",
"hgvs_p": null,
"transcript": "ENST00000896552.1",
"protein_id": "ENSP00000566611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896552.1"
},
{
"aa_ref": null,
"aa_alt": null,
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"intron_variant"
],
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{
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],
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"biotype": "nonsense_mediated_decay",
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{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "APOC4-APOC2",
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"transcript": "NR_037932.1",
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"biotype": "pseudogene",
"feature": "NR_037932.1"
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{
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"3_prime_UTR_variant"
],
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"gene_symbol": "APOC4-APOC2",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "APOC2",
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"dbsnp": "rs5122",
"frequency_reference_population": 6.841733e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84173e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.043059319257736206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.0731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.41,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000483.5",
"gene_symbol": "APOC2",
"hgnc_id": 609,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD",
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Glu60Gln"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000589057.5",
"gene_symbol": "APOC4-APOC2",
"hgnc_id": 44426,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.409G>C",
"hgvs_p": "p.Glu137Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}