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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: 9-115904263-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=115904263&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 115904263,
"ref": "T",
"alt": "C",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000832547.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.701+108A>G",
"hgvs_p": null,
"transcript": "ENST00000374014.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000374014.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.593A>G",
"hgvs_p": null,
"transcript": "ENST00000832547.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1027,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.487A>G",
"hgvs_p": null,
"transcript": "ENST00000832548.1",
"protein_id": null,
"transcript_support_level": null,
"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": 729,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.366+5509T>C",
"hgvs_p": null,
"transcript": "ENST00000832372.1",
"protein_id": null,
"transcript_support_level": null,
"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": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.530+5473T>C",
"hgvs_p": null,
"transcript": "ENST00000832375.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.490+5509T>C",
"hgvs_p": null,
"transcript": "ENST00000832376.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.564+5509T>C",
"hgvs_p": null,
"transcript": "ENST00000832377.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.529+5473T>C",
"hgvs_p": null,
"transcript": "ENST00000832378.1",
"protein_id": null,
"transcript_support_level": null,
"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": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.495+5509T>C",
"hgvs_p": null,
"transcript": "ENST00000832379.1",
"protein_id": null,
"transcript_support_level": null,
"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": 734,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.532+5473T>C",
"hgvs_p": null,
"transcript": "ENST00000832380.1",
"protein_id": null,
"transcript_support_level": null,
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.465+5509T>C",
"hgvs_p": null,
"transcript": "ENST00000832381.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832381.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308189",
"gene_hgnc_id": null,
"hgvs_c": "n.474-181T>C",
"hgvs_p": null,
"transcript": "ENST00000832382.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832382.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.464+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832533.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1116,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832533.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.499+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832534.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.351+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832535.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832535.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.360+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832536.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.360+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832537.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000832537.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.513+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832539.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000832539.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.464+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832540.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.361+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832541.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "LINC00474",
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"biotype": "pseudogene",
"feature": "ENST00000832542.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.379+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832543.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 732,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000832543.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00474",
"gene_hgnc_id": 23367,
"hgvs_c": "n.513+108A>G",
"hgvs_p": null,
"transcript": "ENST00000832544.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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{
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{
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{
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],
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],
"gene_symbol": "LINC00474",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.281,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000832547.1",
"gene_symbol": "LINC00474",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.593A>G",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000832372.1",
"gene_symbol": "ENSG00000308189",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.366+5509T>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
}