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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: 2-206162044-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206162044&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206162044,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001959.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "NM_001959.4",
"protein_id": "NP_001950.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 337,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392222.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001959.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000392222.7",
"protein_id": "ENSP00000376056.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 337,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001959.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392222.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000236957.9",
"protein_id": "ENSP00000236957.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 337,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236957.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "ENST00000881937.1",
"protein_id": "ENSP00000551996.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 253,
"cds_start": 421,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881937.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "ENST00000881938.1",
"protein_id": "ENSP00000551997.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 253,
"cds_start": 421,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881938.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "ENST00000924254.1",
"protein_id": "ENSP00000594313.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 253,
"cds_start": 421,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924254.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Glu136Lys",
"transcript": "ENST00000924259.1",
"protein_id": "ENSP00000594318.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 248,
"cds_start": 406,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924259.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Glu121Lys",
"transcript": "ENST00000955596.1",
"protein_id": "ENSP00000625655.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 233,
"cds_start": 361,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955596.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Glu120Lys",
"transcript": "ENST00000881940.1",
"protein_id": "ENSP00000551999.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 232,
"cds_start": 358,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881940.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "NM_001037663.2",
"protein_id": "NP_001032752.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 337,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037663.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "NM_021121.4",
"protein_id": "NP_066944.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 337,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021121.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000445505.6",
"protein_id": "ENSP00000407730.2",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 225,
"cds_start": 337,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445505.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000881936.1",
"protein_id": "ENSP00000551995.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 213,
"cds_start": 337,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881936.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000881939.1",
"protein_id": "ENSP00000551998.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 213,
"cds_start": 337,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881939.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000924253.1",
"protein_id": "ENSP00000594312.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 213,
"cds_start": 337,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924253.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Glu100Lys",
"transcript": "ENST00000924260.1",
"protein_id": "ENSP00000594319.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 212,
"cds_start": 298,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924260.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Glu72Lys",
"transcript": "ENST00000924258.1",
"protein_id": "ENSP00000594317.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 184,
"cds_start": 214,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924258.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000924252.1",
"protein_id": "ENSP00000594311.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 183,
"cds_start": 337,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924252.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000924255.1",
"protein_id": "ENSP00000594314.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 183,
"cds_start": 337,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924255.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"transcript": "ENST00000924256.1",
"protein_id": "ENSP00000594315.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 183,
"cds_start": 337,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924256.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "c.330+572G>A",
"hgvs_p": null,
"transcript": "ENST00000924257.1",
"protein_id": "ENSP00000594316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF1B2",
"gene_hgnc_id": 3208,
"hgvs_c": "n.*376G>A",
"hgvs_p": null,
"transcript": "ENST00000429769.5",
"protein_id": "ENSP00000397793.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000429769.5"
},
{
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{
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{
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{
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{
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],
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"allele_count_reference_population": 2,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2674810588359833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.1535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.526,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001959.4",
"gene_symbol": "EEF1B2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys"
},
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002590.1",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
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},
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002589.1",
"gene_symbol": "SNORD51",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*94G>A",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625269.1",
"gene_symbol": "snoZ196",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}