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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: 1-33117912-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33117912&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33117912,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001301825.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "NM_052998.4",
"protein_id": "NP_443724.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294517.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052998.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000294517.11",
"protein_id": "ENSP00000294517.6",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052998.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294517.11"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1100C>T",
"hgvs_p": "p.Thr367Met",
"transcript": "ENST00000373441.1",
"protein_id": "ENSP00000362540.1",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 480,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373441.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000373443.7",
"protein_id": "ENSP00000362542.3",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373443.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "n.3230C>T",
"hgvs_p": null,
"transcript": "ENST00000484656.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484656.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1100C>T",
"hgvs_p": "p.Thr367Met",
"transcript": "NM_001301825.1",
"protein_id": "NP_001288754.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 480,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301825.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "NM_001293562.2",
"protein_id": "NP_001280491.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293562.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "NM_001376722.1",
"protein_id": "NP_001363651.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376722.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "NM_001376724.1",
"protein_id": "NP_001363653.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376724.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000910998.1",
"protein_id": "ENSP00000581057.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910998.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000910999.1",
"protein_id": "ENSP00000581058.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910999.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000911000.1",
"protein_id": "ENSP00000581059.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911000.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000911001.1",
"protein_id": "ENSP00000581060.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911001.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000911003.1",
"protein_id": "ENSP00000581062.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911003.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000911005.1",
"protein_id": "ENSP00000581064.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911005.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000911006.1",
"protein_id": "ENSP00000581065.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911006.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Met",
"transcript": "ENST00000951909.1",
"protein_id": "ENSP00000621968.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 460,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951909.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Thr342Met",
"transcript": "ENST00000951910.1",
"protein_id": "ENSP00000621969.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 455,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951910.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Met",
"transcript": "NM_001376730.1",
"protein_id": "NP_001363659.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 402,
"cds_start": 866,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376730.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Met",
"transcript": "ENST00000911002.1",
"protein_id": "ENSP00000581061.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 402,
"cds_start": 866,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911002.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Thr289Met",
"transcript": "ENST00000911004.1",
"protein_id": "ENSP00000581063.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 402,
"cds_start": 866,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911004.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Thr284Met",
"transcript": "ENST00000951908.1",
"protein_id": "ENSP00000621967.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 397,
"cds_start": 851,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 8,
"intron_rank": null,
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"transcript_support_level": 2,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000478204.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 9,
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"gene_symbol": "AZIN2",
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"hgvs_c": "n.1296C>T",
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"biotype": "pseudogene",
"feature": "ENST00000481886.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 12,
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"gene_symbol": "AZIN2",
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"hgvs_c": "n.*1094C>T",
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"transcript": "ENST00000652171.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652171.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 12,
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"gene_symbol": "AZIN2",
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"hgvs_c": "n.1663C>T",
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"transcript": "NR_146648.2",
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"cds_end": null,
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"biotype": "pseudogene",
"feature": "NR_146648.2"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 11,
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"gene_symbol": "AZIN2",
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"hgvs_c": "n.1420C>T",
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"biotype": "pseudogene",
"feature": "NR_146649.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "AZIN2",
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"hgvs_c": "n.*1094C>T",
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"transcript": "ENST00000652171.1",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652171.1"
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],
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"dbsnp": "rs751668663",
"frequency_reference_population": 0.000010532107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000957676,
"gnomad_genomes_af": 0.0000197057,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12436428666114807,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0633,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.713,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001301825.1",
"gene_symbol": "AZIN2",
"hgnc_id": 29957,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1100C>T",
"hgvs_p": "p.Thr367Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}