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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: 10-76944906-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=76944906&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 76944906,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001161352.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2769C>T",
"hgvs_p": "p.Cys923Cys",
"transcript": "NM_001161352.2",
"protein_id": "NP_001154824.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2769,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286628.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161352.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2769C>T",
"hgvs_p": "p.Cys923Cys",
"transcript": "ENST00000286628.14",
"protein_id": "ENSP00000286628.8",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2769,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001161352.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286628.14"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2718C>T",
"hgvs_p": "p.Cys906Cys",
"transcript": "ENST00000626620.3",
"protein_id": "ENSP00000485867.1",
"transcript_support_level": 1,
"aa_start": 906,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2718,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626620.3"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2604C>T",
"hgvs_p": "p.Cys868Cys",
"transcript": "ENST00000639406.1",
"protein_id": "ENSP00000491732.1",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639406.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2595C>T",
"hgvs_p": "p.Cys865Cys",
"transcript": "ENST00000286627.10",
"protein_id": "ENSP00000286627.5",
"transcript_support_level": 1,
"aa_start": 865,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2595,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286627.10"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2445C>T",
"hgvs_p": "p.Cys815Cys",
"transcript": "ENST00000640807.1",
"protein_id": "ENSP00000491555.1",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2445,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640807.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2190C>T",
"hgvs_p": "p.Cys730Cys",
"transcript": "ENST00000604624.6",
"protein_id": "ENSP00000473714.2",
"transcript_support_level": 1,
"aa_start": 730,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2190,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604624.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1474C>T",
"hgvs_p": null,
"transcript": "ENST00000639691.1",
"protein_id": "ENSP00000491040.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639691.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.2819C>T",
"hgvs_p": null,
"transcript": "ENST00000639851.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000639851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "n.*1474C>T",
"hgvs_p": null,
"transcript": "ENST00000639691.1",
"protein_id": "ENSP00000491040.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639691.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2769C>T",
"hgvs_p": "p.Cys923Cys",
"transcript": "ENST00000404771.8",
"protein_id": "ENSP00000385717.3",
"transcript_support_level": 5,
"aa_start": 923,
"aa_end": null,
"aa_length": 1288,
"cds_start": 2769,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404771.8"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2778C>T",
"hgvs_p": "p.Cys926Cys",
"transcript": "ENST00000639591.1",
"protein_id": "ENSP00000492793.1",
"transcript_support_level": 5,
"aa_start": 926,
"aa_end": null,
"aa_length": 1246,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639591.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2790C>T",
"hgvs_p": "p.Cys930Cys",
"transcript": "ENST00000640523.1",
"protein_id": "ENSP00000491795.1",
"transcript_support_level": 5,
"aa_start": 930,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2790,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640523.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2781C>T",
"hgvs_p": "p.Cys927Cys",
"transcript": "ENST00000638759.1",
"protein_id": "ENSP00000492632.1",
"transcript_support_level": 5,
"aa_start": 927,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2781,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638759.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2778C>T",
"hgvs_p": "p.Cys926Cys",
"transcript": "ENST00000638575.1",
"protein_id": "ENSP00000492049.1",
"transcript_support_level": 5,
"aa_start": 926,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2778,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638575.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2781C>T",
"hgvs_p": "p.Cys927Cys",
"transcript": "ENST00000638848.1",
"protein_id": "ENSP00000492414.1",
"transcript_support_level": 5,
"aa_start": 927,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2781,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638848.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Cys872Cys",
"transcript": "ENST00000640605.1",
"protein_id": "ENSP00000491435.1",
"transcript_support_level": 5,
"aa_start": 872,
"aa_end": null,
"aa_length": 1238,
"cds_start": 2616,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640605.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2769C>T",
"hgvs_p": "p.Cys923Cys",
"transcript": "ENST00000639544.1",
"protein_id": "ENSP00000492075.1",
"transcript_support_level": 5,
"aa_start": 923,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2769,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639544.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2769C>T",
"hgvs_p": "p.Cys923Cys",
"transcript": "ENST00000457953.6",
"protein_id": "ENSP00000396608.2",
"transcript_support_level": 5,
"aa_start": 923,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2769,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457953.6"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Cys869Cys",
"transcript": "ENST00000638606.1",
"protein_id": "ENSP00000491981.1",
"transcript_support_level": 5,
"aa_start": 869,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638606.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Cys869Cys",
"transcript": "ENST00000640182.1",
"protein_id": "ENSP00000492510.1",
"transcript_support_level": 5,
"aa_start": 869,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2607,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640182.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.2604C>T",
"hgvs_p": "p.Cys868Cys",
"transcript": "ENST00000372440.6",
"protein_id": "ENSP00000361517.2",
"transcript_support_level": 5,
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{
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{
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{
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"gene_symbol": "KCNMA1-AS1",
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{
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],
"gene_symbol": "KCNMA1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
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"gnomad_genomes_af": 0.0000262957,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3610000014305115,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.726,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"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": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001161352.2",
"gene_symbol": "KCNMA1",
"hgnc_id": 6284,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2769C>T",
"hgvs_p": "p.Cys923Cys"
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000458661.6",
"gene_symbol": "KCNMA1-AS1",
"hgnc_id": 51213,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.426-32704G>A",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007062207.1",
"gene_symbol": "LOC124902466",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.381-4060G>A",
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}
],
"clinvar_disease": "Generalized epilepsy-paroxysmal dyskinesia syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Generalized epilepsy-paroxysmal dyskinesia syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}