← Back to variant description
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: 19-44908786-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44908786&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44908786,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001302688.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "NM_000041.4",
"protein_id": "NP_000032.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "ENST00000252486.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000041.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000252486.9",
"protein_id": "ENSP00000252486.3",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "NM_000041.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252486.9"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000425718.1",
"protein_id": "ENSP00000410423.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 218,
"cds_start": 490,
"cds_end": null,
"cds_length": 658,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425718.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Lys190Gln",
"transcript": "NM_001302688.2",
"protein_id": "NP_001289617.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 343,
"cds_start": 568,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302688.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.544A>C",
"hgvs_p": "p.Lys182Gln",
"transcript": "ENST00000864831.1",
"protein_id": "ENSP00000534890.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 335,
"cds_start": 544,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864831.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.541A>C",
"hgvs_p": "p.Lys181Gln",
"transcript": "ENST00000864832.1",
"protein_id": "ENSP00000534891.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 334,
"cds_start": 541,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864832.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "NM_001302689.2",
"protein_id": "NP_001289618.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302689.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "NM_001302690.2",
"protein_id": "NP_001289619.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302690.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "NM_001302691.2",
"protein_id": "NP_001289620.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302691.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864817.1",
"protein_id": "ENSP00000534877.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864817.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864820.1",
"protein_id": "ENSP00000534879.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864820.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864822.1",
"protein_id": "ENSP00000534881.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864822.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864826.1",
"protein_id": "ENSP00000534885.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864826.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864828.1",
"protein_id": "ENSP00000534887.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864828.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864829.1",
"protein_id": "ENSP00000534888.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864829.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864834.1",
"protein_id": "ENSP00000534893.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864834.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864835.1",
"protein_id": "ENSP00000534894.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864835.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864836.1",
"protein_id": "ENSP00000534895.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864836.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864837.1",
"protein_id": "ENSP00000534896.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864837.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864838.1",
"protein_id": "ENSP00000534897.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864838.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864839.1",
"protein_id": "ENSP00000534898.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864839.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864840.1",
"protein_id": "ENSP00000534899.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864840.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864841.1",
"protein_id": "ENSP00000534900.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864841.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864842.1",
"protein_id": "ENSP00000534901.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864842.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864843.1",
"protein_id": "ENSP00000534902.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864843.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864844.1",
"protein_id": "ENSP00000534903.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864844.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864845.1",
"protein_id": "ENSP00000534904.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864845.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864846.1",
"protein_id": "ENSP00000534905.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864846.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864847.1",
"protein_id": "ENSP00000534906.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864847.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864848.1",
"protein_id": "ENSP00000534907.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864848.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000864849.1",
"protein_id": "ENSP00000534908.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 317,
"cds_start": 490,
"cds_end": null,
"cds_length": 954,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864849.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Lys190Gln",
"transcript": "ENST00000434152.5",
"protein_id": "ENSP00000413653.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 268,
"cds_start": 568,
"cds_end": null,
"cds_length": 807,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434152.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.490A>C",
"hgvs_p": "p.Lys164Gln",
"transcript": "ENST00000446996.5",
"protein_id": "ENSP00000413135.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 215,
"cds_start": 490,
"cds_end": null,
"cds_length": 648,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446996.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.220-189A>C",
"hgvs_p": null,
"transcript": "ENST00000864824.1",
"protein_id": "ENSP00000534883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864824.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.220-189A>C",
"hgvs_p": null,
"transcript": "ENST00000864830.1",
"protein_id": "ENSP00000534889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864830.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"hgvs_c": "c.44-46A>C",
"hgvs_p": null,
"transcript": "ENST00000864833.1",
"protein_id": "ENSP00000534892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864833.1"
}
],
"gene_symbol": "APOE",
"gene_hgnc_id": 613,
"dbsnp": "rs121918394",
"frequency_reference_population": 0.0000014235767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142358,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9629849195480347,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.759,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.072,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001302688.2",
"gene_symbol": "APOE",
"hgnc_id": 613,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Lys190Gln"
}
],
"clinvar_disease": " due to APOE2, type III,Hyperlipoproteinemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hyperlipoproteinemia, type III, due to APOE2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}