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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: 12-125076605-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=125076605&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 125076605,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_023928.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_023928.5",
"protein_id": "NP_076417.2",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 672,
"cds_start": 352,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316519.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023928.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000316519.11",
"protein_id": "ENSP00000324842.6",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 672,
"cds_start": 352,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023928.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316519.11"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000852618.1",
"protein_id": "ENSP00000522677.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 671,
"cds_start": 352,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852618.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001414675.1",
"protein_id": "NP_001401604.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 652,
"cds_start": 352,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414675.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000852617.1",
"protein_id": "ENSP00000522676.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 652,
"cds_start": 352,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852617.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001319840.2",
"protein_id": "NP_001306769.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 631,
"cds_start": 352,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319840.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000852620.1",
"protein_id": "ENSP00000522679.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 631,
"cds_start": 352,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852620.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001319839.2",
"protein_id": "NP_001306768.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 599,
"cds_start": 352,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319839.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001414676.1",
"protein_id": "NP_001401605.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 558,
"cds_start": 352,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414676.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000938197.1",
"protein_id": "ENSP00000608256.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 557,
"cds_start": 352,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938197.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000971010.1",
"protein_id": "ENSP00000641069.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 554,
"cds_start": 352,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971010.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000971007.1",
"protein_id": "ENSP00000641066.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 528,
"cds_start": 352,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971007.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001414677.1",
"protein_id": "NP_001401606.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 500,
"cds_start": 352,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414677.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000971008.1",
"protein_id": "ENSP00000641067.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 500,
"cds_start": 352,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971008.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000971009.1",
"protein_id": "ENSP00000641068.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 473,
"cds_start": 352,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971009.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000852621.1",
"protein_id": "ENSP00000522680.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 462,
"cds_start": 352,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852621.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000852619.1",
"protein_id": "ENSP00000522678.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 420,
"cds_start": 352,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852619.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000938196.1",
"protein_id": "ENSP00000608255.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 393,
"cds_start": 352,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938196.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000852622.1",
"protein_id": "ENSP00000522681.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 377,
"cds_start": 352,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852622.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001414678.1",
"protein_id": "NP_001401607.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 374,
"cds_start": 352,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414678.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "ENST00000971006.1",
"protein_id": "ENSP00000641065.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 278,
"cds_start": 352,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971006.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AACS",
"gene_hgnc_id": 21298,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "XM_047429446.1",
"protein_id": "XP_047285402.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 397,
"cds_start": 352,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429446.1"
},
{
"aa_ref": null,
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{
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{
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{
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{
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{
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],
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],
"gene_symbol": "AACS",
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"dbsnp": "rs11549081",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07984885573387146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1925,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.524,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_023928.5",
"gene_symbol": "AACS",
"hgnc_id": 21298,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile118Leu"
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001749364.2",
"gene_symbol": "LOC105370052",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.194+4885T>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}