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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: 15-24888839-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=24888839&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 24888839,
"ref": "A",
"alt": "C",
"effect": "splice_region_variant",
"transcript": "NM_001400738.1",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-505+2250A>C",
"hgvs_p": null,
"transcript": "ENST00000400097.5",
"protein_id": "ENSP00000382969.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-505+2250A>C",
"hgvs_p": null,
"transcript": "ENST00000400100.5",
"protein_id": "ENSP00000382972.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-622A>C",
"hgvs_p": null,
"transcript": "NM_001400738.1",
"protein_id": "NP_001387667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-506A>C",
"hgvs_p": null,
"transcript": "NM_001400745.1",
"protein_id": "NP_001387674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-622A>C",
"hgvs_p": null,
"transcript": "NM_001400738.1",
"protein_id": "NP_001387667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-506A>C",
"hgvs_p": null,
"transcript": "NM_001400745.1",
"protein_id": "NP_001387674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-738+2250A>C",
"hgvs_p": null,
"transcript": "NM_001378251.1",
"protein_id": "NP_001365180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-728+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349454.2",
"protein_id": "NP_001336383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-673+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349455.2",
"protein_id": "NP_001336384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-580+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349456.2",
"protein_id": "NP_001336385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-673+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349457.2",
"protein_id": "NP_001336386.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-505+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349458.2",
"protein_id": "NP_001336387.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-504-31172A>C",
"hgvs_p": null,
"transcript": "NM_001349459.2",
"protein_id": "NP_001336388.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 240,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-748+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349460.2",
"protein_id": "NP_001336389.1",
"transcript_support_level": 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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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "SNRPN",
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"hgvs_c": "c.-580+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349461.2",
"protein_id": "NP_001336390.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-673+2250A>C",
"hgvs_p": null,
"transcript": "NM_001349462.2",
"protein_id": "NP_001336391.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-521-23524A>C",
"hgvs_p": null,
"transcript": "NM_001400634.1",
"protein_id": "NP_001387563.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-679+2250A>C",
"hgvs_p": null,
"transcript": "NM_001400635.1",
"protein_id": "NP_001387564.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-488+2250A>C",
"hgvs_p": null,
"transcript": "NM_001400636.1",
"protein_id": "NP_001387565.1",
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},
{
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"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-505+2250A>C",
"hgvs_p": null,
"transcript": "NM_001400637.1",
"protein_id": "NP_001387566.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-669+2250A>C",
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"transcript": "NM_001400638.1",
"protein_id": "NP_001387567.1",
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},
{
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"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": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-621+2250A>C",
"hgvs_p": null,
"transcript": "NM_001400639.1",
"protein_id": "NP_001387568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNRPN",
"gene_hgnc_id": 11164,
"hgvs_c": "c.-963+2250A>C",
"hgvs_p": null,
"transcript": "NM_001400640.1",
"protein_id": "NP_001387569.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 240,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2333,
"mane_select": null,
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"feature": null
},
{
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},
{
"aa_ref": null,
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],
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}
],
"gene_symbol": "SNRPN",
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"allele_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001400738.1",
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"effects": [
"splice_region_variant"
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"inheritance_mode": "AD",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_146177.1",
"gene_symbol": "SNHG14",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.398+2250A>C",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000650707.1",
"gene_symbol": "ENSG00000286110",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.687+2250A>C",
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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
}