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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: 12-88058879-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=88058879&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 88058879,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025114.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6787A>G",
"hgvs_p": "p.Ser2263Gly",
"transcript": "NM_025114.4",
"protein_id": "NP_079390.3",
"transcript_support_level": null,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2479,
"cds_start": 6787,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000552810.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025114.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6787A>G",
"hgvs_p": "p.Ser2263Gly",
"transcript": "ENST00000552810.6",
"protein_id": "ENSP00000448012.1",
"transcript_support_level": 1,
"aa_start": 2263,
"aa_end": null,
"aa_length": 2479,
"cds_start": 6787,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025114.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552810.6"
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.3927+1019A>G",
"hgvs_p": null,
"transcript": "ENST00000547691.8",
"protein_id": "ENSP00000446905.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1468,
"cds_start": null,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547691.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7648A>G",
"hgvs_p": "p.Ser2550Gly",
"transcript": "ENST00000675476.1",
"protein_id": "ENSP00000502161.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2766,
"cds_start": 7648,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675476.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7555A>G",
"hgvs_p": "p.Ser2519Gly",
"transcript": "ENST00000675833.1",
"protein_id": "ENSP00000502559.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2735,
"cds_start": 7555,
"cds_end": null,
"cds_length": 8208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675833.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6796A>G",
"hgvs_p": "p.Ser2266Gly",
"transcript": "ENST00000309041.12",
"protein_id": "ENSP00000308021.8",
"transcript_support_level": 5,
"aa_start": 2266,
"aa_end": null,
"aa_length": 2482,
"cds_start": 6796,
"cds_end": null,
"cds_length": 7449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309041.12"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6766A>G",
"hgvs_p": "p.Ser2256Gly",
"transcript": "ENST00000675230.1",
"protein_id": "ENSP00000502503.1",
"transcript_support_level": null,
"aa_start": 2256,
"aa_end": null,
"aa_length": 2472,
"cds_start": 6766,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675230.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6712A>G",
"hgvs_p": "p.Ser2238Gly",
"transcript": "ENST00000940537.1",
"protein_id": "ENSP00000610596.1",
"transcript_support_level": null,
"aa_start": 2238,
"aa_end": null,
"aa_length": 2454,
"cds_start": 6712,
"cds_end": null,
"cds_length": 7365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940537.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6664A>G",
"hgvs_p": "p.Ser2222Gly",
"transcript": "ENST00000673058.2",
"protein_id": "ENSP00000500665.2",
"transcript_support_level": null,
"aa_start": 2222,
"aa_end": null,
"aa_length": 2438,
"cds_start": 6664,
"cds_end": null,
"cds_length": 7317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673058.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6622A>G",
"hgvs_p": "p.Ser2208Gly",
"transcript": "ENST00000675408.1",
"protein_id": "ENSP00000502298.1",
"transcript_support_level": null,
"aa_start": 2208,
"aa_end": null,
"aa_length": 2424,
"cds_start": 6622,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675408.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.6601A>G",
"hgvs_p": "p.Ser2201Gly",
"transcript": "ENST00000940538.1",
"protein_id": "ENSP00000610597.1",
"transcript_support_level": null,
"aa_start": 2201,
"aa_end": null,
"aa_length": 2417,
"cds_start": 6601,
"cds_end": null,
"cds_length": 7254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940538.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7657A>G",
"hgvs_p": "p.Ser2553Gly",
"transcript": "XM_011538756.4",
"protein_id": "XP_011537058.1",
"transcript_support_level": null,
"aa_start": 2553,
"aa_end": null,
"aa_length": 2769,
"cds_start": 7657,
"cds_end": null,
"cds_length": 8310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538756.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7657A>G",
"hgvs_p": "p.Ser2553Gly",
"transcript": "XM_011538757.4",
"protein_id": "XP_011537059.1",
"transcript_support_level": null,
"aa_start": 2553,
"aa_end": null,
"aa_length": 2769,
"cds_start": 7657,
"cds_end": null,
"cds_length": 8310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538757.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7654A>G",
"hgvs_p": "p.Ser2552Gly",
"transcript": "XM_011538758.4",
"protein_id": "XP_011537060.1",
"transcript_support_level": null,
"aa_start": 2552,
"aa_end": null,
"aa_length": 2768,
"cds_start": 7654,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538758.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7648A>G",
"hgvs_p": "p.Ser2550Gly",
"transcript": "XM_011538759.3",
"protein_id": "XP_011537061.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2766,
"cds_start": 7648,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538759.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7534A>G",
"hgvs_p": "p.Ser2512Gly",
"transcript": "XM_011538760.3",
"protein_id": "XP_011537062.1",
"transcript_support_level": null,
"aa_start": 2512,
"aa_end": null,
"aa_length": 2728,
"cds_start": 7534,
"cds_end": null,
"cds_length": 8187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538760.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7525A>G",
"hgvs_p": "p.Ser2509Gly",
"transcript": "XM_017019980.3",
"protein_id": "XP_016875469.1",
"transcript_support_level": null,
"aa_start": 2509,
"aa_end": null,
"aa_length": 2725,
"cds_start": 7525,
"cds_end": null,
"cds_length": 8178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019980.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7492A>G",
"hgvs_p": "p.Ser2498Gly",
"transcript": "XM_011538761.3",
"protein_id": "XP_011537063.1",
"transcript_support_level": null,
"aa_start": 2498,
"aa_end": null,
"aa_length": 2714,
"cds_start": 7492,
"cds_end": null,
"cds_length": 8145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538761.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7483A>G",
"hgvs_p": "p.Ser2495Gly",
"transcript": "XM_017019981.3",
"protein_id": "XP_016875470.1",
"transcript_support_level": null,
"aa_start": 2495,
"aa_end": null,
"aa_length": 2711,
"cds_start": 7483,
"cds_end": null,
"cds_length": 8136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019981.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7657A>G",
"hgvs_p": "p.Ser2553Gly",
"transcript": "XM_017019982.2",
"protein_id": "XP_016875471.1",
"transcript_support_level": null,
"aa_start": 2553,
"aa_end": null,
"aa_length": 2612,
"cds_start": 7657,
"cds_end": null,
"cds_length": 7839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019982.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7648A>G",
"hgvs_p": "p.Ser2550Gly",
"transcript": "XM_047429558.1",
"protein_id": "XP_047285514.1",
"transcript_support_level": null,
"aa_start": 2550,
"aa_end": null,
"aa_length": 2609,
"cds_start": 7648,
"cds_end": null,
"cds_length": 7830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429558.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.7483A>G",
"hgvs_p": "p.Ser2495Gly",
"transcript": "XM_047429559.1",
"protein_id": "XP_047285515.1",
"transcript_support_level": null,
"aa_start": 2495,
"aa_end": null,
"aa_length": 2554,
"cds_start": 7483,
"cds_end": null,
"cds_length": 7665,
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"feature": "ENST00000675794.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124902977",
"gene_hgnc_id": null,
"hgvs_c": "n.886+1859T>C",
"hgvs_p": null,
"transcript": "XR_007063393.1",
"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_007063393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902977",
"gene_hgnc_id": null,
"hgvs_c": "n.*44T>C",
"hgvs_p": null,
"transcript": "XR_007063392.1",
"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_007063392.1"
}
],
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"dbsnp": "rs77778467",
"frequency_reference_population": 0.00022614958,
"hom_count_reference_population": 1,
"allele_count_reference_population": 365,
"gnomad_exomes_af": 0.000218253,
"gnomad_genomes_af": 0.000301893,
"gnomad_exomes_ac": 319,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005719900131225586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5400000214576721,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.06,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.54,
"spliceai_max_prediction": "Pathogenic",
"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": "PP3,BP6",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025114.4",
"gene_symbol": "CEP290",
"hgnc_id": 29021,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6787A>G",
"hgvs_p": "p.Ser2263Gly"
},
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007063393.1",
"gene_symbol": "LOC124902977",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.886+1859T>C",
"hgvs_p": null
}
],
"clinvar_disease": " type 4,Bardet-Biedl syndrome 14,Joubert syndrome,Joubert syndrome 1,Joubert syndrome 5,Leber congenital amaurosis,Leber congenital amaurosis 10,Meckel syndrome,Meckel-Gruber syndrome,Nephronophthisis,Retinal dystrophy,Senior-Loken syndrome 6,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:10 LB:2 B:2",
"phenotype_combined": "not specified|not provided|Meckel syndrome, type 4|Joubert syndrome 1|Joubert syndrome 5|Leber congenital amaurosis 10|Senior-Loken syndrome 6|Bardet-Biedl syndrome 14|Leber congenital amaurosis|Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis|Retinal dystrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}