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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: 9-116698728-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=116698728&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 116698728,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012210.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "NM_012210.4",
"protein_id": "NP_036342.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450136.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012210.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000450136.2",
"protein_id": "ENSP00000408292.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012210.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450136.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000373983.2",
"protein_id": "ENSP00000363095.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373983.2"
},
{
"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": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2806+27043G>A",
"hgvs_p": null,
"transcript": "NM_001365068.1",
"protein_id": "NP_001351997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": null,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313400.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365068.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2806+27043G>A",
"hgvs_p": null,
"transcript": "ENST00000313400.9",
"protein_id": "ENSP00000314038.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": null,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365068.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313400.9"
},
{
"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": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2653+27043G>A",
"hgvs_p": null,
"transcript": "ENST00000361209.6",
"protein_id": "ENSP00000354504.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361209.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "NM_001099679.2",
"protein_id": "NP_001093149.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099679.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "NM_001379048.1",
"protein_id": "NP_001365977.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379048.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "NM_001379049.1",
"protein_id": "NP_001365978.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379049.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "NM_001379050.1",
"protein_id": "NP_001365979.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379050.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000882855.1",
"protein_id": "ENSP00000552914.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882855.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000882856.1",
"protein_id": "ENSP00000552915.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882856.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000882857.1",
"protein_id": "ENSP00000552916.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882857.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000882858.1",
"protein_id": "ENSP00000552917.1",
"transcript_support_level": null,
"aa_start": 329,
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"aa_length": 653,
"cds_start": 986,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882858.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000882859.1",
"protein_id": "ENSP00000552918.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
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"cds_start": 986,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000882859.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000882860.1",
"protein_id": "ENSP00000552919.1",
"transcript_support_level": null,
"aa_start": 329,
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"aa_length": 653,
"cds_start": 986,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882860.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000929584.1",
"protein_id": "ENSP00000599643.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 653,
"cds_start": 986,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929584.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000929585.1",
"protein_id": "ENSP00000599644.1",
"transcript_support_level": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000929585.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu",
"transcript": "ENST00000929586.1",
"protein_id": "ENSP00000599645.1",
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"biotype": "protein_coding",
"feature": "ENST00000929586.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2803+27043G>A",
"hgvs_p": null,
"transcript": "ENST00000882685.1",
"protein_id": "ENSP00000552744.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882685.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2794+27043G>A",
"hgvs_p": null,
"transcript": "NM_001365069.1",
"protein_id": "NP_001351998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1335,
"cds_start": null,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365069.1"
},
{
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2653+27043G>A",
"hgvs_p": null,
"transcript": "ENST00000361477.8",
"protein_id": "ENSP00000355116.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": null,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361477.8"
},
{
"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": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2653+27043G>A",
"hgvs_p": null,
"transcript": "NM_014010.5",
"protein_id": "NP_054729.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014010.5"
},
{
"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": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.1975+27043G>A",
"hgvs_p": null,
"transcript": "ENST00000373986.7",
"protein_id": "ENSP00000363098.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": null,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373986.7"
}
],
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"dbsnp": "rs377510422",
"frequency_reference_population": 0.000030359468,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000307827,
"gnomad_genomes_af": 0.0000262926,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2039411962032318,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.0774,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.681,
"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": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012210.4",
"gene_symbol": "TRIM32",
"hgnc_id": 16380,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Pro329Leu"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001365068.1",
"gene_symbol": "ASTN2",
"hgnc_id": 17021,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2806+27043G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 11,Sarcotubular myopathy,TRIM32-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Bardet-Biedl syndrome|Sarcotubular myopathy;Bardet-Biedl syndrome 11|TRIM32-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}