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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: 16-28823518-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28823518&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28823518,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387166.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_007245.4",
"protein_id": "NP_009176.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1075,
"cds_start": 259,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336783.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007245.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000336783.9",
"protein_id": "ENSP00000338718.4",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1075,
"cds_start": 259,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007245.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336783.9"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000395547.6",
"protein_id": "ENSP00000378917.2",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1097,
"cds_start": 259,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395547.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000564304.5",
"protein_id": "ENSP00000457613.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1068,
"cds_start": 259,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564304.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000325215.10",
"protein_id": "ENSP00000315650.6",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1062,
"cds_start": 259,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325215.10"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000570200.5",
"protein_id": "ENSP00000454516.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1062,
"cds_start": 259,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570200.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000340394.12",
"protein_id": "ENSP00000341459.8",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1044,
"cds_start": 259,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340394.12"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000382686.8",
"protein_id": "ENSP00000372133.4",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1044,
"cds_start": 259,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382686.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387166.1",
"protein_id": "NP_001374095.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1103,
"cds_start": 259,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387166.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387167.1",
"protein_id": "NP_001374096.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1097,
"cds_start": 259,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387167.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387168.1",
"protein_id": "NP_001374097.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1097,
"cds_start": 259,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387168.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_148414.3",
"protein_id": "NP_680780.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1097,
"cds_start": 259,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148414.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387169.1",
"protein_id": "NP_001374098.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1085,
"cds_start": 259,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387169.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387170.1",
"protein_id": "NP_001374099.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1085,
"cds_start": 259,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387170.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387171.1",
"protein_id": "NP_001374100.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1082,
"cds_start": 259,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387171.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387172.1",
"protein_id": "NP_001374101.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1081,
"cds_start": 259,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387172.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "ENST00000892823.1",
"protein_id": "ENSP00000562882.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1081,
"cds_start": 259,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892823.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387173.1",
"protein_id": "NP_001374102.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1080,
"cds_start": 259,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387173.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387174.1",
"protein_id": "NP_001374103.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
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"cds_start": 259,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387174.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387175.1",
"protein_id": "NP_001374104.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387175.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387176.1",
"protein_id": "NP_001374105.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1079,
"cds_start": 259,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387176.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.His87Tyr",
"transcript": "NM_001387177.1",
"protein_id": "NP_001374106.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1079,
"cds_start": 259,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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{
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],
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"computational_score_selected": 0.08417204022407532,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001387166.1",
"gene_symbol": "ATXN2L",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000614819.1",
"gene_symbol": "ENSG00000275807",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.452G>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065042.1",
"gene_symbol": "LOC124903672",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149+376G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}