← 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: 16-11553578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11553578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11553578,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000622633.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "NM_001136472.2",
"protein_id": "NP_001129944.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": "ENST00000622633.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000622633.5",
"protein_id": "ENSP00000483114.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": "NM_001136472.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000339430.9",
"protein_id": "ENSP00000340118.5",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000570904.5",
"protein_id": "ENSP00000459138.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000571688.6",
"protein_id": "ENSP00000459533.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "NM_004862.4",
"protein_id": "NP_004853.2",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000574763.5",
"protein_id": "ENSP00000461813.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000576036.5",
"protein_id": "ENSP00000461667.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000571627.5",
"protein_id": "ENSP00000460743.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 152,
"cds_start": 332,
"cds_end": null,
"cds_length": 461,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "NM_001136473.1",
"protein_id": "NP_001129945.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 152,
"cds_start": 332,
"cds_end": null,
"cds_length": 459,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000413364.6",
"protein_id": "ENSP00000397958.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 152,
"cds_start": 332,
"cds_end": null,
"cds_length": 459,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000570798.5",
"protein_id": "ENSP00000458871.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 136,
"cds_start": 332,
"cds_end": null,
"cds_length": 412,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000574701.5",
"protein_id": "ENSP00000458981.1",
"transcript_support_level": 4,
"aa_start": 111,
"aa_end": null,
"aa_length": 135,
"cds_start": 332,
"cds_end": null,
"cds_length": 409,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "ENST00000571976.1",
"protein_id": "ENSP00000460133.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 126,
"cds_start": 332,
"cds_end": null,
"cds_length": 381,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"transcript": "ENST00000572255.5",
"protein_id": "ENSP00000458836.1",
"transcript_support_level": 4,
"aa_start": 18,
"aa_end": null,
"aa_length": 68,
"cds_start": 53,
"cds_end": null,
"cds_length": 207,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "XM_011522754.4",
"protein_id": "XP_011521056.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 191,
"cds_start": 422,
"cds_end": null,
"cds_length": 576,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "XM_047434926.1",
"protein_id": "XP_047290882.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 191,
"cds_start": 422,
"cds_end": null,
"cds_length": 576,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "XM_047434927.1",
"protein_id": "XP_047290883.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 191,
"cds_start": 422,
"cds_end": null,
"cds_length": 576,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "XM_047434928.1",
"protein_id": "XP_047290884.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 191,
"cds_start": 422,
"cds_end": null,
"cds_length": 576,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "XM_047434929.1",
"protein_id": "XP_047290885.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 191,
"cds_start": 422,
"cds_end": null,
"cds_length": 576,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "XM_006720982.4",
"protein_id": "XP_006721045.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "XM_006720983.5",
"protein_id": "XP_006721046.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val",
"transcript": "XM_006720984.5",
"protein_id": "XP_006721047.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 161,
"cds_start": 332,
"cds_end": null,
"cds_length": 486,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "n.*145C>T",
"hgvs_p": null,
"transcript": "ENST00000573332.5",
"protein_id": "ENSP00000460873.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "n.*119C>T",
"hgvs_p": null,
"transcript": "ENST00000575426.1",
"protein_id": "ENSP00000459094.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "n.466C>T",
"hgvs_p": null,
"transcript": "NR_024320.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "n.*145C>T",
"hgvs_p": null,
"transcript": "ENST00000573332.5",
"protein_id": "ENSP00000460873.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "n.*119C>T",
"hgvs_p": null,
"transcript": "ENST00000575426.1",
"protein_id": "ENSP00000459094.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.220+2933C>T",
"hgvs_p": null,
"transcript": "ENST00000571459.5",
"protein_id": "ENSP00000459603.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": -4,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"dbsnp": "rs281865134",
"frequency_reference_population": 6.8405535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84055e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6481908559799194,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3598,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.179,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PM5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000622633.5",
"gene_symbol": "LITAF",
"hgnc_id": 16841,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ala111Val"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 1C",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 1C",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}