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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: 2-18563975-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=18563975&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 18563975,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199087.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Leu492Phe",
"transcript": "NM_033253.4",
"protein_id": "NP_150278.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 550,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "ENST00000304081.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033253.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Leu492Phe",
"transcript": "ENST00000304081.9",
"protein_id": "ENSP00000305979.4",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 550,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": "NM_033253.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304081.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Leu552Phe",
"transcript": "ENST00000359846.6",
"protein_id": "ENSP00000352904.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359846.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Leu552Phe",
"transcript": "ENST00000532967.5",
"protein_id": "ENSP00000433415.1",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 602,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532967.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "n.*795C>T",
"hgvs_p": null,
"transcript": "ENST00000406971.6",
"protein_id": "ENSP00000383905.2",
"transcript_support_level": 5,
"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": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000406971.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "n.*795C>T",
"hgvs_p": null,
"transcript": "ENST00000406971.6",
"protein_id": "ENSP00000383905.2",
"transcript_support_level": 5,
"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": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000406971.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Leu569Phe",
"transcript": "NM_001199087.2",
"protein_id": "NP_001186016.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 627,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199087.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Leu554Phe",
"transcript": "NM_001199088.2",
"protein_id": "NP_001186017.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 612,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199088.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Leu552Phe",
"transcript": "NM_001002006.3",
"protein_id": "NP_001002006.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002006.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Leu552Phe",
"transcript": "NM_001199104.2",
"protein_id": "NP_001186033.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 602,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199104.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Leu535Phe",
"transcript": "NM_001199086.2",
"protein_id": "NP_001186015.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 593,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199086.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Leu206Phe",
"transcript": "ENST00000418427.1",
"protein_id": "ENSP00000390811.1",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 264,
"cds_start": 616,
"cds_end": null,
"cds_length": 795,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1336-8167C>T",
"hgvs_p": null,
"transcript": "NM_001199103.2",
"protein_id": "NP_001186032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199103.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1336-8167C>T",
"hgvs_p": null,
"transcript": "ENST00000444297.2",
"protein_id": "ENSP00000412639.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444297.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304698",
"gene_hgnc_id": null,
"hgvs_c": "n.428G>A",
"hgvs_p": null,
"transcript": "ENST00000805686.1",
"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": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000805686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304698",
"gene_hgnc_id": null,
"hgvs_c": "n.413G>A",
"hgvs_p": null,
"transcript": "ENST00000805687.1",
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000805687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.671G>A",
"hgvs_p": null,
"transcript": "XR_001739304.3",
"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": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739304.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "XR_001739311.2",
"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": 664,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739311.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.376G>A",
"hgvs_p": null,
"transcript": "XR_001739313.2",
"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": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739313.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "XR_007086227.1",
"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": 748,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007086227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "XR_007086228.1",
"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": 628,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007086228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.1037G>A",
"hgvs_p": null,
"transcript": "XR_007086229.1",
"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": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007086229.1"
},
{
"aa_ref": null,
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{
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],
"gene_symbol": "NT5C1B",
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"dbsnp": "rs1300002168",
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.934341311454773,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.836,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.949,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199087.2",
"gene_symbol": "NT5C1B",
"hgnc_id": 17818,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Leu569Phe"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199104.2",
"gene_symbol": "NT5C1B-RDH14",
"hgnc_id": 38831,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Leu552Phe"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000805686.1",
"gene_symbol": "ENSG00000304698",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.428G>A",
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},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_427002.4",
"gene_symbol": "LOC105373456",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.540G>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
}