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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: 11-88337644-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=88337644&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 88337644,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000227266.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "NM_001814.6",
"protein_id": "NP_001805.4",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 463,
"cds_start": 29,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "ENST00000227266.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000227266.10",
"protein_id": "ENSP00000227266.4",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 463,
"cds_start": 29,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "NM_001814.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000529974.2",
"protein_id": "ENSP00000433539.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 141,
"cds_start": 29,
"cds_end": null,
"cds_length": 426,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000524463.6",
"protein_id": "ENSP00000432541.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 137,
"cds_start": 29,
"cds_end": null,
"cds_length": 414,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000678464.1",
"protein_id": "ENSP00000503046.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 452,
"cds_start": 29,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000678506.1",
"protein_id": "ENSP00000503580.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 450,
"cds_start": 29,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000678915.1",
"protein_id": "ENSP00000504805.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 419,
"cds_start": 29,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000527018.6",
"protein_id": "ENSP00000432556.2",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 325,
"cds_start": 29,
"cds_end": null,
"cds_length": 978,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000393301.5",
"protein_id": "ENSP00000503502.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 165,
"cds_start": 29,
"cds_end": null,
"cds_length": 498,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "NM_001114173.3",
"protein_id": "NP_001107645.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 141,
"cds_start": 29,
"cds_end": null,
"cds_length": 426,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 6056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "NM_148170.5",
"protein_id": "NP_680475.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 137,
"cds_start": 29,
"cds_end": null,
"cds_length": 414,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000677106.1",
"protein_id": "ENSP00000504568.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 137,
"cds_start": 29,
"cds_end": null,
"cds_length": 414,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000679199.1",
"protein_id": "ENSP00000504179.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 134,
"cds_start": 29,
"cds_end": null,
"cds_length": 405,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val",
"transcript": "ENST00000677976.1",
"protein_id": "ENSP00000502887.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 117,
"cds_start": 29,
"cds_end": null,
"cds_length": 354,
"cdna_start": 79,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.93C>T",
"hgvs_p": null,
"transcript": "ENST00000533865.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.77C>T",
"hgvs_p": null,
"transcript": "ENST00000533897.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.83C>T",
"hgvs_p": null,
"transcript": "ENST00000534131.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000676612.1",
"protein_id": "ENSP00000504440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000677208.1",
"protein_id": "ENSP00000504347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000677468.1",
"protein_id": "ENSP00000503100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000677661.1",
"protein_id": "ENSP00000503323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000677796.1",
"protein_id": "ENSP00000504297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSC",
"gene_hgnc_id": 2528,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000677802.1",
"protein_id": "ENSP00000504115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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},
{
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"exon_count": 4,
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},
{
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"exon_count": 5,
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},
{
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"exon_count": 5,
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}
],
"gene_symbol": "CTSC",
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"dbsnp": "rs765499436",
"frequency_reference_population": 0.00012503631,
"hom_count_reference_population": 0,
"allele_count_reference_population": 198,
"gnomad_exomes_af": 0.000128556,
"gnomad_genomes_af": 0.0000919516,
"gnomad_exomes_ac": 184,
"gnomad_genomes_ac": 14,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06302553415298462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.1349,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.26,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000227266.10",
"gene_symbol": "CTSC",
"hgnc_id": 2528,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.29C>T",
"hgvs_p": "p.Ala10Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000726481.1",
"gene_symbol": "ENSG00000288018",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.246G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_188508.1",
"gene_symbol": "LOC101929174",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-240G>A",
"hgvs_p": null
}
],
"clinvar_disease": " aggressive 1,Haim-Munk syndrome,Papillon-Lefèvre syndrome,Periodontitis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Papillon-Lefèvre syndrome|Haim-Munk syndrome|Periodontitis, aggressive 1;Haim-Munk syndrome;Papillon-Lefèvre syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}