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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: 5-111735456-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=111735456&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 111735456,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001142475.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_004772.4",
"protein_id": "NP_004763.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257435.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004772.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "ENST00000257435.12",
"protein_id": "ENSP00000257435.7",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004772.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257435.12"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "ENST00000379671.7",
"protein_id": "ENSP00000368993.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379671.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "ENST00000447165.6",
"protein_id": "ENSP00000408839.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447165.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "n.111A>C",
"hgvs_p": null,
"transcript": "ENST00000503429.1",
"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": "retained_intron",
"feature": "ENST00000503429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "n.534A>C",
"hgvs_p": null,
"transcript": "ENST00000504018.1",
"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": "retained_intron",
"feature": "ENST00000504018.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "n.55A>C",
"hgvs_p": null,
"transcript": "ENST00000514515.5",
"protein_id": "ENSP00000427595.1",
"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": "ENST00000514515.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "STARD4-AS1",
"gene_hgnc_id": 44117,
"hgvs_c": "n.4102+610T>G",
"hgvs_p": null,
"transcript": "ENST00000500779.2",
"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": "ENST00000500779.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.187A>C",
"hgvs_p": "p.Lys63Gln",
"transcript": "NM_001142475.2",
"protein_id": "NP_001135947.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 112,
"cds_start": 187,
"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_001142475.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.187A>C",
"hgvs_p": "p.Lys63Gln",
"transcript": "ENST00000395634.7",
"protein_id": "ENSP00000378996.3",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 112,
"cds_start": 187,
"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": "ENST00000395634.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "NM_001142474.2",
"protein_id": "NP_001135946.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 102,
"cds_start": 157,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142474.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142476.1",
"protein_id": "NP_001135948.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142476.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142477.1",
"protein_id": "NP_001135949.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142477.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142478.2",
"protein_id": "NP_001135950.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142478.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142479.1",
"protein_id": "NP_001135951.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142479.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142480.1",
"protein_id": "NP_001135952.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142480.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142481.1",
"protein_id": "NP_001135953.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142481.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142482.1",
"protein_id": "NP_001135954.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142482.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "NM_001142483.1",
"protein_id": "NP_001135955.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142483.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "ENST00000419114.6",
"protein_id": "ENSP00000399766.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419114.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"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": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "ENST00000446294.6",
"protein_id": "ENSP00000402965.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446294.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NREP",
"gene_hgnc_id": 16834,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Lys19Gln",
"transcript": "ENST00000450761.6",
"protein_id": "ENSP00000416617.2",
"transcript_support_level": 4,
"aa_start": 19,
"aa_end": null,
"aa_length": 68,
"cds_start": 55,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450761.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
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"strand": true,
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],
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"biotype": "pseudogene",
"feature": "NR_040093.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "NREP",
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"transcript": "ENST00000507032.2",
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"cds_length": 15,
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"biotype": "protein_coding",
"feature": "ENST00000507032.2"
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],
"gene_symbol": "NREP",
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"dbsnp": "rs747507026",
"frequency_reference_population": 6.846567e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84657e-7,
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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": 0.09567105770111084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1213,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.271,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142475.2",
"gene_symbol": "NREP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.187A>C",
"hgvs_p": "p.Lys63Gln"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000500779.2",
"gene_symbol": "STARD4-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4102+610T>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}