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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: 4-144116906-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=144116906&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 144116906,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002099.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Asp",
"transcript": "NM_002099.8",
"protein_id": "NP_002090.4",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 150,
"cds_start": 305,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000641688.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002099.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Asp",
"transcript": "ENST00000641688.3",
"protein_id": "ENSP00000493142.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 150,
"cds_start": 305,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002099.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641688.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Asp",
"transcript": "ENST00000360771.8",
"protein_id": "ENSP00000354003.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 150,
"cds_start": 305,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360771.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Gly100Asp",
"transcript": "ENST00000535709.6",
"protein_id": "ENSP00000445398.2",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 148,
"cds_start": 299,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535709.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Gly89Asp",
"transcript": "ENST00000512064.5",
"protein_id": "ENSP00000426130.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 137,
"cds_start": 266,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512064.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"transcript": "ENST00000504786.5",
"protein_id": "ENSP00000425549.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 118,
"cds_start": 209,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504786.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Gly69Asp",
"transcript": "ENST00000324022.14",
"protein_id": "ENSP00000324483.10",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 117,
"cds_start": 206,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324022.14"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Gly57Asp",
"transcript": "ENST00000503627.2",
"protein_id": "ENSP00000421243.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 105,
"cds_start": 170,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503627.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Gly37Asp",
"transcript": "ENST00000512789.5",
"protein_id": "ENSP00000425193.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 85,
"cds_start": 110,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512789.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "n.*259G>A",
"hgvs_p": null,
"transcript": "ENST00000508337.1",
"protein_id": "ENSP00000425719.1",
"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": "ENST00000508337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "n.*259G>A",
"hgvs_p": null,
"transcript": "ENST00000508337.1",
"protein_id": "ENSP00000425719.1",
"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": "ENST00000508337.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Gly100Asp",
"transcript": "ENST00000616983.4",
"protein_id": "ENSP00000478329.1",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 148,
"cds_start": 299,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616983.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Asp",
"transcript": "NM_001438046.1",
"protein_id": "NP_001424975.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 145,
"cds_start": 305,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438046.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Gly102Asp",
"transcript": "ENST00000642295.1",
"protein_id": "ENSP00000496079.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 145,
"cds_start": 305,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642295.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Gly89Asp",
"transcript": "NM_001308187.2",
"protein_id": "NP_001295116.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 137,
"cds_start": 266,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308187.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Asp",
"transcript": "NM_001438627.1",
"protein_id": "NP_001425556.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 227,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438627.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Asp",
"transcript": "ENST00000642713.1",
"protein_id": "ENSP00000494092.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 227,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642713.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Gly76Asp",
"transcript": "ENST00000646447.1",
"protein_id": "ENSP00000495922.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 227,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646447.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Gly69Asp",
"transcript": "NM_001308190.2",
"protein_id": "NP_001295119.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 117,
"cds_start": 206,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308190.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Gly69Asp",
"transcript": "NM_001438625.1",
"protein_id": "NP_001425554.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 112,
"cds_start": 206,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438625.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Gly56Asp",
"transcript": "NM_001438626.1",
"protein_id": "NP_001425555.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 104,
"cds_start": 167,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438626.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYPA",
"gene_hgnc_id": 4702,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Gly69Asp",
"transcript": "ENST00000642738.1",
"protein_id": "ENSP00000494322.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 103,
"cds_start": 206,
"cds_end": null,
"cds_length": 314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642738.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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{
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{
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{
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.158,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002099.8",
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"effects": [
"missense_variant"
],
"inheritance_mode": "BG",
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{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000650526.1",
"gene_symbol": "ENSG00000285783",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1261G>A",
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},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000641428.1",
"gene_symbol": "GUSBP5",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.643-1334C>T",
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},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_002959803.2",
"gene_symbol": "LOC105377460",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.5270+1677C>T",
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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
}