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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: 17-48895186-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48895186&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48895186,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005175.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "NM_005175.3",
"protein_id": "NP_005166.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393366.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005175.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000393366.7",
"protein_id": "ENSP00000377033.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005175.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393366.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000355938.9",
"protein_id": "ENSP00000348205.5",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355938.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000938823.1",
"protein_id": "ENSP00000608882.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 163,
"cds_start": 148,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938823.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.223G>T",
"hgvs_p": "p.Ala75Ser",
"transcript": "ENST00000938821.1",
"protein_id": "ENSP00000608880.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 161,
"cds_start": 223,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938821.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.223G>T",
"hgvs_p": "p.Ala75Ser",
"transcript": "ENST00000938824.1",
"protein_id": "ENSP00000608883.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 161,
"cds_start": 223,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938824.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.211G>T",
"hgvs_p": "p.Ala71Ser",
"transcript": "ENST00000938819.1",
"protein_id": "ENSP00000608878.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 157,
"cds_start": 211,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938819.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "NM_001002027.2",
"protein_id": "NP_001002027.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002027.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000873688.1",
"protein_id": "ENSP00000543747.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873688.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000938818.1",
"protein_id": "ENSP00000608877.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938818.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000938820.1",
"protein_id": "ENSP00000608879.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938820.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000938826.1",
"protein_id": "ENSP00000608885.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 136,
"cds_start": 148,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938826.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.121G>T",
"hgvs_p": "p.Ala41Ser",
"transcript": "ENST00000503641.5",
"protein_id": "ENSP00000426094.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 127,
"cds_start": 121,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503641.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.121G>T",
"hgvs_p": "p.Ala41Ser",
"transcript": "ENST00000873687.1",
"protein_id": "ENSP00000543746.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 127,
"cds_start": 121,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873687.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.121G>T",
"hgvs_p": "p.Ala41Ser",
"transcript": "ENST00000938825.1",
"protein_id": "ENSP00000608884.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 127,
"cds_start": 121,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938825.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Ala24Ser",
"transcript": "ENST00000506855.1",
"protein_id": "ENSP00000422950.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 110,
"cds_start": 70,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506855.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Ala24Ser",
"transcript": "ENST00000873689.1",
"protein_id": "ENSP00000543748.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 110,
"cds_start": 70,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873689.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Ala15Ser",
"transcript": "ENST00000938822.1",
"protein_id": "ENSP00000608881.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 101,
"cds_start": 43,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938822.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000514808.5",
"protein_id": "ENSP00000422086.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 99,
"cds_start": 148,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514808.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser",
"transcript": "ENST00000504591.2",
"protein_id": "ENSP00000458423.2",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 97,
"cds_start": 148,
"cds_end": null,
"cds_length": 296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504591.2"
},
{
"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": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "c.118-491G>T",
"hgvs_p": null,
"transcript": "ENST00000873686.1",
"protein_id": "ENSP00000543745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873686.1"
},
{
"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": "ATP5MC1",
"gene_hgnc_id": 841,
"hgvs_c": "n.314G>T",
"hgvs_p": null,
"transcript": "ENST00000502964.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000502964.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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{
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{
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{
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],
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1183476448059082,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.794,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005175.3",
"gene_symbol": "ATP5MC1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.148G>T",
"hgvs_p": "p.Ala50Ser"
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000508743.2",
"gene_symbol": "ENSG00000293025",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46-2509C>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_135674.1",
"gene_symbol": "LOC105371814",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.46-2509C>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
}