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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: 20-25296426-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25296426&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25296426,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002862.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2436C>A",
"hgvs_p": "p.Phe812Leu",
"transcript": "NM_002862.4",
"protein_id": "NP_002853.2",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 843,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216962.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002862.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2436C>A",
"hgvs_p": "p.Phe812Leu",
"transcript": "ENST00000216962.9",
"protein_id": "ENSP00000216962.3",
"transcript_support_level": 1,
"aa_start": 812,
"aa_end": null,
"aa_length": 843,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002862.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216962.9"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ABHD12",
"gene_hgnc_id": 15868,
"hgvs_c": "c.1158-1396G>T",
"hgvs_p": null,
"transcript": "ENST00000376542.8",
"protein_id": "ENSP00000365725.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376542.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2571C>A",
"hgvs_p": "p.Phe857Leu",
"transcript": "ENST00000896654.1",
"protein_id": "ENSP00000566713.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 888,
"cds_start": 2571,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896654.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2499C>A",
"hgvs_p": "p.Phe833Leu",
"transcript": "ENST00000944638.1",
"protein_id": "ENSP00000614697.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 864,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944638.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Phe823Leu",
"transcript": "ENST00000944641.1",
"protein_id": "ENSP00000614700.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 854,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944641.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2451C>A",
"hgvs_p": "p.Phe817Leu",
"transcript": "ENST00000923185.1",
"protein_id": "ENSP00000593244.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 848,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923185.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2436C>A",
"hgvs_p": "p.Phe812Leu",
"transcript": "ENST00000944640.1",
"protein_id": "ENSP00000614699.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 843,
"cds_start": 2436,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944640.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2433C>A",
"hgvs_p": "p.Phe811Leu",
"transcript": "ENST00000944639.1",
"protein_id": "ENSP00000614698.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 842,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944639.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2430C>A",
"hgvs_p": "p.Phe810Leu",
"transcript": "ENST00000896653.1",
"protein_id": "ENSP00000566712.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 841,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896653.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2427C>A",
"hgvs_p": "p.Phe809Leu",
"transcript": "ENST00000944646.1",
"protein_id": "ENSP00000614705.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 840,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944646.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2418C>A",
"hgvs_p": "p.Phe806Leu",
"transcript": "ENST00000896650.1",
"protein_id": "ENSP00000566709.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 837,
"cds_start": 2418,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896650.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2418C>A",
"hgvs_p": "p.Phe806Leu",
"transcript": "ENST00000944642.1",
"protein_id": "ENSP00000614701.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 837,
"cds_start": 2418,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944642.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2415C>A",
"hgvs_p": "p.Phe805Leu",
"transcript": "ENST00000896648.1",
"protein_id": "ENSP00000566707.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 836,
"cds_start": 2415,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896648.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2403C>A",
"hgvs_p": "p.Phe801Leu",
"transcript": "ENST00000896652.1",
"protein_id": "ENSP00000566711.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 832,
"cds_start": 2403,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896652.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2391C>A",
"hgvs_p": "p.Phe797Leu",
"transcript": "ENST00000896656.1",
"protein_id": "ENSP00000566715.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 828,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896656.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2373C>A",
"hgvs_p": "p.Phe791Leu",
"transcript": "ENST00000944645.1",
"protein_id": "ENSP00000614704.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 822,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944645.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2343C>A",
"hgvs_p": "p.Phe781Leu",
"transcript": "ENST00000896655.1",
"protein_id": "ENSP00000566714.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 812,
"cds_start": 2343,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896655.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2334C>A",
"hgvs_p": "p.Phe778Leu",
"transcript": "ENST00000896649.1",
"protein_id": "ENSP00000566708.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 809,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896649.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2334C>A",
"hgvs_p": "p.Phe778Leu",
"transcript": "ENST00000944643.1",
"protein_id": "ENSP00000614702.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 809,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944643.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2292C>A",
"hgvs_p": "p.Phe764Leu",
"transcript": "ENST00000944644.1",
"protein_id": "ENSP00000614703.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 795,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944644.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2274C>A",
"hgvs_p": "p.Phe758Leu",
"transcript": "ENST00000896651.1",
"protein_id": "ENSP00000566710.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 789,
"cds_start": 2274,
"cds_end": null,
"cds_length": 2370,
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{
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],
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},
{
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"feature": "ENST00000428458.1"
},
{
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"strand": false,
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],
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"biotype": "protein_coding",
"feature": "NM_015600.5"
},
{
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],
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"transcript": "ENST00000672871.1",
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},
{
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"consequences": [
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],
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"biotype": "pseudogene",
"feature": "ENST00000471359.1"
},
{
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],
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"protein_id": "ENSP00000459278.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465694.2"
},
{
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"intron_variant"
],
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"gene_symbol": "ABHD12",
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"hgvs_c": "n.*166-1396G>T",
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"transcript": "ENST00000672331.1",
"protein_id": "ENSP00000500286.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000672331.1"
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],
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"dbsnp": "rs977518115",
"frequency_reference_population": 6.841031e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84103e-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": 0.9834812879562378,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.899,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9991,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.308,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002862.4",
"gene_symbol": "PYGB",
"hgnc_id": 9723,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2436C>A",
"hgvs_p": "p.Phe812Leu"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_015600.5",
"gene_symbol": "ABHD12",
"hgnc_id": 15868,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1158-1396G>T",
"hgvs_p": null
}
],
"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
}