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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: 2-63122055-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63122055&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63122055,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015910.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2192A>T",
"hgvs_p": "p.Glu731Val",
"transcript": "NM_015910.7",
"protein_id": "NP_056994.3",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 746,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": "ENST00000272321.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015910.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2192A>T",
"hgvs_p": "p.Glu731Val",
"transcript": "ENST00000272321.12",
"protein_id": "ENSP00000272321.7",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 746,
"cds_start": 2192,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": "NM_015910.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272321.12"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1715A>T",
"hgvs_p": "p.Glu572Val",
"transcript": "ENST00000398544.7",
"protein_id": "ENSP00000381552.3",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 587,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398544.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Glu539Val",
"transcript": "ENST00000409120.5",
"protein_id": "ENSP00000386769.1",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 554,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 5167,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409120.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Glu778Val",
"transcript": "ENST00000946854.1",
"protein_id": "ENSP00000616913.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 793,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2548,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946854.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2144A>T",
"hgvs_p": "p.Glu715Val",
"transcript": "ENST00000872046.1",
"protein_id": "ENSP00000542105.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 730,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872046.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2120A>T",
"hgvs_p": "p.Glu707Val",
"transcript": "NM_001354044.2",
"protein_id": "NP_001340973.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 722,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2650,
"cdna_end": null,
"cdna_length": 5146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354044.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2003A>T",
"hgvs_p": "p.Glu668Val",
"transcript": "ENST00000872048.1",
"protein_id": "ENSP00000542107.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 683,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872048.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2000A>T",
"hgvs_p": "p.Glu667Val",
"transcript": "ENST00000946852.1",
"protein_id": "ENSP00000616911.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 682,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946852.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1751A>T",
"hgvs_p": "p.Glu584Val",
"transcript": "ENST00000872047.1",
"protein_id": "ENSP00000542106.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 599,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872047.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1715A>T",
"hgvs_p": "p.Glu572Val",
"transcript": "NM_001042692.3",
"protein_id": "NP_001036157.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 587,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042692.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1616A>T",
"hgvs_p": "p.Glu539Val",
"transcript": "ENST00000409199.5",
"protein_id": "ENSP00000386592.1",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 554,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409199.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1562A>T",
"hgvs_p": "p.Glu521Val",
"transcript": "ENST00000946853.1",
"protein_id": "ENSP00000616912.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 536,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946853.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2120A>T",
"hgvs_p": "p.Glu707Val",
"transcript": "XM_047444631.1",
"protein_id": "XP_047300587.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 722,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444631.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2112A>T",
"hgvs_p": "p.Gly704Gly",
"transcript": "XM_005264348.5",
"protein_id": "XP_005264405.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 781,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264348.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2040A>T",
"hgvs_p": "p.Gly680Gly",
"transcript": "XM_011532881.4",
"protein_id": "XP_011531183.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 757,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532881.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2040A>T",
"hgvs_p": "p.Gly680Gly",
"transcript": "XM_047444626.1",
"protein_id": "XP_047300582.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 757,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 7726,
"cdna_end": null,
"cdna_length": 10222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444626.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2040A>T",
"hgvs_p": "p.Gly680Gly",
"transcript": "XM_047444627.1",
"protein_id": "XP_047300583.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 757,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444627.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2040A>T",
"hgvs_p": "p.Gly680Gly",
"transcript": "XM_047444628.1",
"protein_id": "XP_047300584.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 757,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444628.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2040A>T",
"hgvs_p": "p.Gly680Gly",
"transcript": "XM_047444629.1",
"protein_id": "XP_047300585.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 757,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 3253,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444629.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.2013A>T",
"hgvs_p": "p.Gly671Gly",
"transcript": "XM_047444630.1",
"protein_id": "XP_047300586.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 748,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444630.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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{
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{
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{
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"non_coding_transcript_exon_variant"
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{
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"non_coding_transcript_exon_variant"
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},
{
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},
{
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"3_prime_UTR_variant"
],
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{
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"intron_variant"
],
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.14540669322013855,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.097,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.5,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015910.7",
"gene_symbol": "WDPCP",
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"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000657946.1",
"gene_symbol": "ENSG00000286480",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Bardet-Biedl syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Bardet-Biedl syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}