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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: 2-189754002-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189754002&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189754002,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022353.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_022353.3",
"protein_id": "NP_071748.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264151.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022353.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000264151.10",
"protein_id": "ENSP00000264151.5",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022353.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264151.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000522700.5",
"protein_id": "ENSP00000429697.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522700.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001354347.2",
"protein_id": "NP_001341276.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354347.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376077.1",
"protein_id": "NP_001363006.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376077.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376078.1",
"protein_id": "NP_001363007.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376078.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376079.1",
"protein_id": "NP_001363008.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376079.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376080.1",
"protein_id": "NP_001363009.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376080.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376081.1",
"protein_id": "NP_001363010.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376081.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376082.1",
"protein_id": "NP_001363011.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376082.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376083.1",
"protein_id": "NP_001363012.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376083.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000868797.1",
"protein_id": "ENSP00000538856.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868797.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000868798.1",
"protein_id": "ENSP00000538857.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868798.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000937445.1",
"protein_id": "ENSP00000607504.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937445.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000937446.1",
"protein_id": "ENSP00000607505.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937446.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000937447.1",
"protein_id": "ENSP00000607506.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 414,
"cds_start": 877,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937447.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376097.1",
"protein_id": "NP_001363026.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 411,
"cds_start": 877,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376097.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376098.1",
"protein_id": "NP_001363027.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 400,
"cds_start": 877,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376098.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376099.1",
"protein_id": "NP_001363028.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 387,
"cds_start": 877,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376099.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "NM_001376100.1",
"protein_id": "NP_001363029.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 364,
"cds_start": 877,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376100.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val",
"transcript": "ENST00000519810.5",
"protein_id": "ENSP00000428859.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 364,
"cds_start": 877,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519810.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.436A>G",
"hgvs_p": "p.Met146Val",
"transcript": "NM_001376084.1",
"protein_id": "NP_001363013.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 267,
"cds_start": 436,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "n.930A>G",
"hgvs_p": null,
"transcript": "XR_002959323.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002959323.2"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ANKAR",
"gene_hgnc_id": 26350,
"hgvs_c": "n.*585-7096T>C",
"hgvs_p": null,
"transcript": "ENST00000441800.5",
"protein_id": "ENSP00000407459.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441800.5"
}
],
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"dbsnp": "rs746967208",
"frequency_reference_population": 0.0000043380182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342132,
"gnomad_genomes_af": 0.0000131392,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03814738988876343,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.0645,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.939,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022353.3",
"gene_symbol": "OSGEPL1",
"hgnc_id": 23075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.877A>G",
"hgvs_p": "p.Met293Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000441800.5",
"gene_symbol": "ANKAR",
"hgnc_id": 26350,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*585-7096T>C",
"hgvs_p": null
}
],
"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
}