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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: 2-96023316-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96023316&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96023316,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000434632.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "NM_001321527.2",
"protein_id": "NP_001308456.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 801,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "ENST00000434632.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "ENST00000434632.6",
"protein_id": "ENSP00000389395.2",
"transcript_support_level": 5,
"aa_start": 680,
"aa_end": null,
"aa_length": 801,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": "NM_001321527.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "ENST00000359548.8",
"protein_id": "ENSP00000352547.4",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 795,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 2761,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "n.2167A>G",
"hgvs_p": null,
"transcript": "ENST00000484440.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "NM_001321525.2",
"protein_id": "NP_001308454.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 801,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "NM_001321526.2",
"protein_id": "NP_001308455.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 801,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "NM_207328.4",
"protein_id": "NP_997211.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 795,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "ENST00000691940.1",
"protein_id": "ENSP00000509624.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 795,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.1826A>G",
"hgvs_p": "p.Tyr609Cys",
"transcript": "NM_001321529.2",
"protein_id": "NP_001308458.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 730,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Tyr603Cys",
"transcript": "NM_001321530.2",
"protein_id": "NP_001308459.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 724,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Tyr603Cys",
"transcript": "ENST00000453542.5",
"protein_id": "ENSP00000393770.1",
"transcript_support_level": 2,
"aa_start": 603,
"aa_end": null,
"aa_length": 724,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "XM_047443461.1",
"protein_id": "XP_047299417.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 827,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "XM_047443462.1",
"protein_id": "XP_047299418.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 827,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "XM_047443463.1",
"protein_id": "XP_047299419.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 827,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "XM_047443464.1",
"protein_id": "XP_047299420.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 827,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "XM_047443465.1",
"protein_id": "XP_047299421.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 821,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "XM_017003424.2",
"protein_id": "XP_016858913.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 801,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "XM_047443466.1",
"protein_id": "XP_047299422.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 795,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2474,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "XM_047443467.1",
"protein_id": "XP_047299423.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 795,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "XM_047443468.1",
"protein_id": "XP_047299424.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 795,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAT2",
"gene_hgnc_id": 27168,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys",
"transcript": "XM_047443469.1",
"protein_id": "XP_047299425.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 721,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291176",
"gene_hgnc_id": null,
"hgvs_c": "n.876T>C",
"hgvs_p": null,
"transcript": "ENST00000443258.10",
"protein_id": null,
"transcript_support_level": 3,
"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": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
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{
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},
{
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},
{
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},
{
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],
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},
{
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"downstream_gene_variant"
],
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}
],
"gene_symbol": "GPAT2",
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"dbsnp": "rs371617943",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
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"gnomad_genomes_af": 0.0000525065,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 8,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12499776482582092,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.343,
"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": "ENST00000434632.6",
"gene_symbol": "GPAT2",
"hgnc_id": 27168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Tyr680Cys"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000467292.8",
"gene_symbol": "ENSG00000291176",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1062T>C",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_003698.1",
"gene_symbol": "FAHD2CP",
"hgnc_id": 44135,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*180T>C",
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}
],
"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
}