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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: 3-4815135-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4815135&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 4815135,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378452.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7784G>C",
"hgvs_p": "p.Gly2595Ala",
"transcript": "NM_001378452.1",
"protein_id": "NP_001365381.1",
"transcript_support_level": null,
"aa_start": 2595,
"aa_end": null,
"aa_length": 2758,
"cds_start": 7784,
"cds_end": null,
"cds_length": 8277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649015.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378452.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7784G>C",
"hgvs_p": "p.Gly2595Ala",
"transcript": "ENST00000649015.2",
"protein_id": "ENSP00000497605.1",
"transcript_support_level": null,
"aa_start": 2595,
"aa_end": null,
"aa_length": 2758,
"cds_start": 7784,
"cds_end": null,
"cds_length": 8277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378452.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649015.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7760G>C",
"hgvs_p": "p.Gly2587Ala",
"transcript": "ENST00000354582.12",
"protein_id": "ENSP00000346595.8",
"transcript_support_level": 5,
"aa_start": 2587,
"aa_end": null,
"aa_length": 2750,
"cds_start": 7760,
"cds_end": null,
"cds_length": 8253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354582.12"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7757G>C",
"hgvs_p": "p.Gly2586Ala",
"transcript": "ENST00000648266.1",
"protein_id": "ENSP00000498014.1",
"transcript_support_level": null,
"aa_start": 2586,
"aa_end": null,
"aa_length": 2749,
"cds_start": 7757,
"cds_end": null,
"cds_length": 8250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648266.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7742G>C",
"hgvs_p": "p.Gly2581Ala",
"transcript": "ENST00000650294.1",
"protein_id": "ENSP00000498056.1",
"transcript_support_level": null,
"aa_start": 2581,
"aa_end": null,
"aa_length": 2744,
"cds_start": 7742,
"cds_end": null,
"cds_length": 8235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650294.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7739G>C",
"hgvs_p": "p.Gly2580Ala",
"transcript": "ENST00000443694.5",
"protein_id": "ENSP00000401671.2",
"transcript_support_level": 1,
"aa_start": 2580,
"aa_end": null,
"aa_length": 2743,
"cds_start": 7739,
"cds_end": null,
"cds_length": 8232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443694.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7712G>C",
"hgvs_p": "p.Gly2571Ala",
"transcript": "ENST00000648309.1",
"protein_id": "ENSP00000497026.1",
"transcript_support_level": null,
"aa_start": 2571,
"aa_end": null,
"aa_length": 2734,
"cds_start": 7712,
"cds_end": null,
"cds_length": 8205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648309.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7640G>C",
"hgvs_p": "p.Gly2547Ala",
"transcript": "ENST00000357086.10",
"protein_id": "ENSP00000349597.4",
"transcript_support_level": 1,
"aa_start": 2547,
"aa_end": null,
"aa_length": 2710,
"cds_start": 7640,
"cds_end": null,
"cds_length": 8133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357086.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7595G>C",
"hgvs_p": "p.Gly2532Ala",
"transcript": "ENST00000456211.8",
"protein_id": "ENSP00000397885.2",
"transcript_support_level": 1,
"aa_start": 2532,
"aa_end": null,
"aa_length": 2695,
"cds_start": 7595,
"cds_end": null,
"cds_length": 8088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456211.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.5546G>C",
"hgvs_p": "p.Gly1849Ala",
"transcript": "ENST00000648038.1",
"protein_id": "ENSP00000497872.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 2012,
"cds_start": 5546,
"cds_end": null,
"cds_length": 6039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648038.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.4961G>C",
"hgvs_p": "p.Gly1654Ala",
"transcript": "ENST00000648431.1",
"protein_id": "ENSP00000498149.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1817,
"cds_start": 4961,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648431.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.4724G>C",
"hgvs_p": "p.Gly1575Ala",
"transcript": "ENST00000648212.1",
"protein_id": "ENSP00000498022.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1738,
"cds_start": 4724,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648212.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.1673G>C",
"hgvs_p": "p.Gly558Ala",
"transcript": "ENST00000544951.6",
"protein_id": "ENSP00000440564.1",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 721,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544951.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7739G>C",
"hgvs_p": "p.Gly2580Ala",
"transcript": "NM_001168272.2",
"protein_id": "NP_001161744.1",
"transcript_support_level": null,
"aa_start": 2580,
"aa_end": null,
"aa_length": 2743,
"cds_start": 7739,
"cds_end": null,
"cds_length": 8232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168272.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7640G>C",
"hgvs_p": "p.Gly2547Ala",
"transcript": "NM_001099952.4",
"protein_id": "NP_001093422.2",
"transcript_support_level": null,
"aa_start": 2547,
"aa_end": null,
"aa_length": 2710,
"cds_start": 7640,
"cds_end": null,
"cds_length": 8133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099952.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.7595G>C",
"hgvs_p": "p.Gly2532Ala",
"transcript": "NM_002222.7",
"protein_id": "NP_002213.5",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
"aa_length": 2695,
"cds_start": 7595,
"cds_end": null,
"cds_length": 8088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002222.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.4151G>C",
"hgvs_p": "p.Gly1384Ala",
"transcript": "ENST00000648016.1",
"protein_id": "ENSP00000496893.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4151,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648016.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.116G>C",
"hgvs_p": "p.Gly39Ala",
"transcript": "ENST00000478515.2",
"protein_id": "ENSP00000497999.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 186,
"cds_start": 116,
"cds_end": null,
"cds_length": 563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478515.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "ENST00000647685.1",
"protein_id": "ENSP00000497835.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 175,
"cds_start": 35,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647685.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "ENST00000649139.1",
"protein_id": "ENSP00000497226.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 175,
"cds_start": 35,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649139.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Gly12Ala",
"transcript": "ENST00000649908.1",
"protein_id": "ENSP00000497614.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 175,
"cds_start": 35,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649908.1"
},
{
"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": "ITPR1",
"gene_hgnc_id": 6180,
"hgvs_c": "c.445-31004G>C",
"hgvs_p": null,
"transcript": "ENST00000648390.1",
"protein_id": "ENSP00000497404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"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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],
"gene_symbol": "ITPR1",
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"dbsnp": "rs869312685",
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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,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9171030521392822,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.893,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.92,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001378452.1",
"gene_symbol": "ITPR1",
"hgnc_id": 6180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.7784G>C",
"hgvs_p": "p.Gly2595Ala"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000474544.4",
"gene_symbol": "ENSG00000235978",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.39C>G",
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},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007095790.1",
"gene_symbol": "LOC124906209",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.274-704C>G",
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}
],
"clinvar_disease": "Spinocerebellar ataxia type 29",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Spinocerebellar ataxia type 29",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}