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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: 20-25295668-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25295668&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25295668,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002862.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2377C>T",
"hgvs_p": "p.Arg793Trp",
"transcript": "NM_002862.4",
"protein_id": "NP_002853.2",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 843,
"cds_start": 2377,
"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": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2377C>T",
"hgvs_p": "p.Arg793Trp",
"transcript": "ENST00000216962.9",
"protein_id": "ENSP00000216962.3",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 843,
"cds_start": 2377,
"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.1158-638G>A",
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "ENST00000896654.1",
"protein_id": "ENSP00000566713.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 888,
"cds_start": 2512,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2440C>T",
"hgvs_p": "p.Arg814Trp",
"transcript": "ENST00000944638.1",
"protein_id": "ENSP00000614697.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 864,
"cds_start": 2440,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2410C>T",
"hgvs_p": "p.Arg804Trp",
"transcript": "ENST00000944641.1",
"protein_id": "ENSP00000614700.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 854,
"cds_start": 2410,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2392C>T",
"hgvs_p": "p.Arg798Trp",
"transcript": "ENST00000923185.1",
"protein_id": "ENSP00000593244.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 848,
"cds_start": 2392,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2377C>T",
"hgvs_p": "p.Arg793Trp",
"transcript": "ENST00000944640.1",
"protein_id": "ENSP00000614699.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 843,
"cds_start": 2377,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2374C>T",
"hgvs_p": "p.Arg792Trp",
"transcript": "ENST00000944639.1",
"protein_id": "ENSP00000614698.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 842,
"cds_start": 2374,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2371C>T",
"hgvs_p": "p.Arg791Trp",
"transcript": "ENST00000896653.1",
"protein_id": "ENSP00000566712.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 841,
"cds_start": 2371,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2368C>T",
"hgvs_p": "p.Arg790Trp",
"transcript": "ENST00000944646.1",
"protein_id": "ENSP00000614705.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 840,
"cds_start": 2368,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2359C>T",
"hgvs_p": "p.Arg787Trp",
"transcript": "ENST00000896650.1",
"protein_id": "ENSP00000566709.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 837,
"cds_start": 2359,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Arg786Trp",
"transcript": "ENST00000896648.1",
"protein_id": "ENSP00000566707.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 836,
"cds_start": 2356,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "ENST00000896652.1",
"protein_id": "ENSP00000566711.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 832,
"cds_start": 2344,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778Trp",
"transcript": "ENST00000896656.1",
"protein_id": "ENSP00000566715.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 828,
"cds_start": 2332,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2314C>T",
"hgvs_p": "p.Arg772Trp",
"transcript": "ENST00000944645.1",
"protein_id": "ENSP00000614704.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 822,
"cds_start": 2314,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2284C>T",
"hgvs_p": "p.Arg762Trp",
"transcript": "ENST00000896655.1",
"protein_id": "ENSP00000566714.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 812,
"cds_start": 2284,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Trp",
"transcript": "ENST00000896649.1",
"protein_id": "ENSP00000566708.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 809,
"cds_start": 2275,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2275C>T",
"hgvs_p": "p.Arg759Trp",
"transcript": "ENST00000944643.1",
"protein_id": "ENSP00000614702.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 809,
"cds_start": 2275,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Arg745Trp",
"transcript": "ENST00000944644.1",
"protein_id": "ENSP00000614703.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 795,
"cds_start": 2233,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGB",
"gene_hgnc_id": 9723,
"hgvs_c": "c.2215C>T",
"hgvs_p": "p.Arg739Trp",
"transcript": "ENST00000896651.1",
"protein_id": "ENSP00000566710.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 789,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896651.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
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{
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"protein_coding": true,
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"splice_region_variant"
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{
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{
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"feature": "NM_015600.5"
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{
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],
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{
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"non_coding_transcript_exon_variant"
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{
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"intron_variant"
],
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{
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"intron_variant"
],
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],
"gene_symbol": "PYGB",
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"computational_score_selected": 0.009384632110595703,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.667,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1612,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.424,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"apogee2_prediction": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 1,
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"PP3",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002862.4",
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"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.2377C>T",
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{
"score": -9,
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"criteria": [
"PP3",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015600.5",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}