← 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: 1-33092104-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33092104&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AZIN2",
"hgnc_id": 29957,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001301825.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 82,
"alphamissense_prediction": null,
"alphamissense_score": 0.0735,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23043331503868103,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_052998.4",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294517.11",
"protein_coding": true,
"protein_id": "NP_443724.1",
"strand": true,
"transcript": "NM_052998.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000294517.11",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052998.4",
"protein_coding": true,
"protein_id": "ENSP00000294517.6",
"strand": true,
"transcript": "ENST00000294517.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 334,
"cds_end": null,
"cds_length": 1443,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373441.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362540.1",
"strand": true,
"transcript": "ENST00000373441.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373443.7",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362542.3",
"strand": true,
"transcript": "ENST00000373443.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000484656.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.2524G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484656.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1443,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001301825.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288754.1",
"strand": true,
"transcript": "NM_001301825.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001293562.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280491.1",
"strand": true,
"transcript": "NM_001293562.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001376722.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363651.1",
"strand": true,
"transcript": "NM_001376722.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001376724.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363653.1",
"strand": true,
"transcript": "NM_001376724.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5052,
"cdna_start": 694,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910998.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581057.1",
"strand": true,
"transcript": "ENST00000910998.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000910999.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581058.1",
"strand": true,
"transcript": "ENST00000910999.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911000.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581059.1",
"strand": true,
"transcript": "ENST00000911000.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911001.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581060.1",
"strand": true,
"transcript": "ENST00000911001.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911003.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581062.1",
"strand": true,
"transcript": "ENST00000911003.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911005.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581064.1",
"strand": true,
"transcript": "ENST00000911005.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911006.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581065.1",
"strand": true,
"transcript": "ENST00000911006.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 460,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1383,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951909.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621968.1",
"strand": true,
"transcript": "ENST00000951909.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1368,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951910.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621969.1",
"strand": true,
"transcript": "ENST00000951910.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1209,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001376730.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363659.1",
"strand": true,
"transcript": "NM_001376730.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1209,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911002.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581061.1",
"strand": true,
"transcript": "ENST00000911002.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1209,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000911004.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581063.1",
"strand": true,
"transcript": "ENST00000911004.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1194,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951908.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621967.1",
"strand": true,
"transcript": "ENST00000951908.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4944,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001301823.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288752.1",
"strand": true,
"transcript": "NM_001301823.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001301824.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288753.1",
"strand": true,
"transcript": "NM_001301824.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350398.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337327.1",
"strand": true,
"transcript": "NM_001350398.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350399.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337328.1",
"strand": true,
"transcript": "NM_001350399.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5060,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350400.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337329.1",
"strand": true,
"transcript": "NM_001350400.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350401.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337330.1",
"strand": true,
"transcript": "NM_001350401.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": 318,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001376725.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363654.1",
"strand": true,
"transcript": "NM_001376725.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 489,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001376727.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363656.1",
"strand": true,
"transcript": "NM_001376727.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5105,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376729.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363658.1",
"strand": true,
"transcript": "NM_001376729.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1089,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001301826.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288755.1",
"strand": true,
"transcript": "NM_001301826.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4854,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1209,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011540557.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538859.1",
"strand": true,
"transcript": "XM_011540557.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 381,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1146,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443450.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299406.1",
"strand": true,
"transcript": "XM_047443450.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 380,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7305,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1143,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443457.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299413.1",
"strand": true,
"transcript": "XM_047443457.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017000175.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855664.1",
"strand": true,
"transcript": "XM_017000175.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 365,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1098,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024452818.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Ala17Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308586.1",
"strand": true,
"transcript": "XM_024452818.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1089,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011540563.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538865.1",
"strand": true,
"transcript": "XM_011540563.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1089,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443473.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299429.1",
"strand": true,
"transcript": "XM_047443473.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1089,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047443474.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299430.1",
"strand": true,
"transcript": "XM_047443474.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 358,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1077,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017000174.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855663.1",
"strand": true,
"transcript": "XM_017000174.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1074,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011540566.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538868.1",
"strand": true,
"transcript": "XM_011540566.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 309,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": null,
"cds_end": null,
"cds_length": 930,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350402.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.-157G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337331.1",
"strand": true,
"transcript": "NM_001350402.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 309,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5062,
"cdna_start": null,
"cds_end": null,
"cds_length": 930,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001376732.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.-157G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363661.1",
"strand": true,
"transcript": "NM_001376732.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911007.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.280-4603G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581066.1",
"strand": true,
"transcript": "ENST00000911007.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 877,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000462920.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.760G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462920.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000471119.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.409G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000471119.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4777,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000475935.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.1457G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000475935.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 879,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000477570.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.305G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477570.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000478204.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.1277G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478204.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 778,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478635.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.541G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478635.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481886.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.590G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481886.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000483027.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.307G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000483027.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000492420.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.875G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492420.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 839,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000497710.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.733G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497710.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000652171.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.*318G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498229.1",
"strand": true,
"transcript": "ENST00000652171.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_126031.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.406G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_126031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_146648.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.887G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_146648.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_146649.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.666G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_146649.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000652171.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.*318G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498229.1",
"strand": true,
"transcript": "ENST00000652171.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 696,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473089.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.241-1178G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000473089.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652381.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.280-4603G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000652381.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376695237",
"effect": "missense_variant",
"frequency_reference_population": 0.000050804447,
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"gnomad_exomes_ac": 74,
"gnomad_exomes_af": 0.00005062,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525762,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.222,
"pos": 33092104,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.211,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001301825.1"
}
]
}