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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: 3-53810156-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53810156&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53810156,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000350061.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6110C>T",
"hgvs_p": "p.Pro2037Leu",
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2181,
"cds_start": 6110,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 6666,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6110C>T",
"hgvs_p": "p.Pro2037Leu",
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2181,
"cds_start": 6110,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 6666,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "NM_000720.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6050C>T",
"hgvs_p": "p.Pro2017Leu",
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": 2017,
"aa_end": null,
"aa_length": 2161,
"cds_start": 6050,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 6606,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "ENST00000350061.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6050C>T",
"hgvs_p": "p.Pro2017Leu",
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": 2017,
"aa_end": null,
"aa_length": 2161,
"cds_start": 6050,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 6606,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "NM_001128840.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6110C>T",
"hgvs_p": "p.Pro2037Leu",
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2181,
"cds_start": 6110,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 6666,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5978C>T",
"hgvs_p": "p.Pro1993Leu",
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": 1993,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5978,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 5978,
"cdna_end": null,
"cdna_length": 7211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6077C>T",
"hgvs_p": "p.Pro2026Leu",
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": 2026,
"aa_end": null,
"aa_length": 2170,
"cds_start": 6077,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 6420,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6005C>T",
"hgvs_p": "p.Pro2002Leu",
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": 2002,
"aa_end": null,
"aa_length": 2146,
"cds_start": 6005,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 6005,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5978C>T",
"hgvs_p": "p.Pro1993Leu",
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": 1993,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5978,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 6534,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6305C>T",
"hgvs_p": "p.Pro2102Leu",
"transcript": "XM_011534094.3",
"protein_id": "XP_011532396.1",
"transcript_support_level": null,
"aa_start": 2102,
"aa_end": null,
"aa_length": 2246,
"cds_start": 6305,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 6320,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6305C>T",
"hgvs_p": "p.Pro2102Leu",
"transcript": "XM_017007137.2",
"protein_id": "XP_016862626.1",
"transcript_support_level": null,
"aa_start": 2102,
"aa_end": null,
"aa_length": 2246,
"cds_start": 6305,
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"cds_length": 6741,
"cdna_start": 6320,
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"cdna_length": 9083,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6302C>T",
"hgvs_p": "p.Pro2101Leu",
"transcript": "XM_017007138.2",
"protein_id": "XP_016862627.1",
"transcript_support_level": null,
"aa_start": 2101,
"aa_end": null,
"aa_length": 2245,
"cds_start": 6302,
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"cdna_start": 6317,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6278C>T",
"hgvs_p": "p.Pro2093Leu",
"transcript": "XM_017007139.2",
"protein_id": "XP_016862628.1",
"transcript_support_level": null,
"aa_start": 2093,
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"aa_length": 2237,
"cds_start": 6278,
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"cdna_start": 6293,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 48,
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"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6245C>T",
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"transcript": "XM_017007140.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6245C>T",
"hgvs_p": "p.Pro2082Leu",
"transcript": "XM_017007141.2",
"protein_id": "XP_016862630.1",
"transcript_support_level": null,
"aa_start": 2082,
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"cds_start": 6245,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 47,
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6233C>T",
"hgvs_p": "p.Pro2078Leu",
"transcript": "XM_047448871.1",
"protein_id": "XP_047304827.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Pro2074Leu",
"transcript": "XM_017007142.2",
"protein_id": "XP_016862631.1",
"transcript_support_level": null,
"aa_start": 2074,
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"cds_start": 6221,
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"cdna_start": 6236,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Pro2074Leu",
"transcript": "XM_017007143.2",
"protein_id": "XP_016862632.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 48,
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"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6221C>T",
"hgvs_p": "p.Pro2074Leu",
"transcript": "XM_017007144.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 47,
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"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6200C>T",
"hgvs_p": "p.Pro2067Leu",
"transcript": "XM_011534100.3",
"protein_id": "XP_011532402.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6176C>T",
"hgvs_p": "p.Pro2059Leu",
"transcript": "XM_017007145.2",
"protein_id": "XP_016862634.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.6149C>T",
"hgvs_p": "p.Pro2050Leu",
"transcript": "XM_047448872.1",
"protein_id": "XP_047304828.1",
"transcript_support_level": null,
"aa_start": 2050,
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"cds_start": 6149,
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"cdna_start": 6164,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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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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},
{
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"3_prime_UTR_variant"
],
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}
],
"gene_symbol": "CACNA1D",
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"dbsnp": "rs876657749",
"frequency_reference_population": 0.000002736596,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027366,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3628009557723999,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.2154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.22,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000350061.11",
"gene_symbol": "CACNA1D",
"hgnc_id": 1391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6050C>T",
"hgvs_p": "p.Pro2017Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}