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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: 2-113909917-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=113909917&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 113909917,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_005721.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "NM_005721.5",
"protein_id": "NP_005712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263238.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005721.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000263238.7",
"protein_id": "ENSP00000263238.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005721.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263238.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868069.1",
"protein_id": "ENSP00000538128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868078.1",
"protein_id": "ENSP00000538137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000958926.1",
"protein_id": "ENSP00000628985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868074.1",
"protein_id": "ENSP00000538133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868077.1",
"protein_id": "ENSP00000538136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000958927.1",
"protein_id": "ENSP00000628986.1",
"transcript_support_level": null,
"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": "ENST00000958927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000931225.1",
"protein_id": "ENSP00000601284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931225.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868070.1",
"protein_id": "ENSP00000538129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
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"cds_length": 1146,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868070.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000958928.1",
"protein_id": "ENSP00000628987.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000958928.1"
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "ACTR3",
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"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868075.1",
"protein_id": "ENSP00000538134.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868075.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.-109-3255C>G",
"hgvs_p": null,
"transcript": "NM_001277140.1",
"protein_id": "NP_001264069.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001277140.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "ACTR3",
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"hgvs_c": "c.-109-3255C>G",
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"transcript": "ENST00000535589.3",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868072.1",
"protein_id": "ENSP00000538131.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000868072.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "ACTR3",
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"hgvs_c": "c.45-3255C>G",
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"transcript": "ENST00000868076.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000931226.1",
"protein_id": "ENSP00000601285.1",
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"mane_select": null,
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"feature": "ENST00000931226.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868073.1",
"protein_id": "ENSP00000538132.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "ACTR3",
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"hgvs_c": "c.45-3255C>G",
"hgvs_p": null,
"transcript": "ENST00000868079.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ACTR3",
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"hgvs_c": "c.45-3255C>G",
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},
{
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"strand": true,
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],
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"gene_symbol": "ACTR3",
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"hgvs_c": "c.45-3255C>G",
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"transcript": "ENST00000958925.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958925.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACTR3",
"gene_hgnc_id": 170,
"hgvs_c": "c.-53-6967C>G",
"hgvs_p": null,
"transcript": "ENST00000443297.5",
"protein_id": "ENSP00000403125.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443297.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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{
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{
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"biotype": "pseudogene",
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],
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"gnomad_genomes_af": 0.298161,
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"gnomad_genomes_ac": 45305,
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"gnomad_genomes_homalt": 11107,
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"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.421,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "NM_005721.5",
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"effects": [
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}