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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: 3-94049426-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=94049426&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 94049426,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394222.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu",
"transcript": "NM_001174150.2",
"protein_id": "NP_001167621.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 428,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "ENST00000394222.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu",
"transcript": "ENST00000394222.8",
"protein_id": "ENSP00000377769.3",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 428,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "NM_001174150.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu",
"transcript": "ENST00000471138.5",
"protein_id": "ENSP00000420780.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 428,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "ENST00000535334.5",
"protein_id": "ENSP00000445145.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 325,
"cds_start": 736,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Lys242Glu",
"transcript": "ENST00000303097.11",
"protein_id": "ENSP00000306225.7",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 321,
"cds_start": 724,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3264,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*897A>G",
"hgvs_p": null,
"transcript": "ENST00000335438.7",
"protein_id": "ENSP00000335400.3",
"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": 3659,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*518A>G",
"hgvs_p": null,
"transcript": "ENST00000460371.5",
"protein_id": "ENSP00000417263.1",
"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": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*897A>G",
"hgvs_p": null,
"transcript": "ENST00000335438.7",
"protein_id": "ENSP00000335400.3",
"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": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*518A>G",
"hgvs_p": null,
"transcript": "ENST00000460371.5",
"protein_id": "ENSP00000417263.1",
"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": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.-12A>G",
"hgvs_p": null,
"transcript": "ENST00000679657.1",
"protein_id": "ENSP00000505494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1132A>G",
"hgvs_p": "p.Lys378Glu",
"transcript": "ENST00000681380.1",
"protein_id": "ENSP00000505402.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 457,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu",
"transcript": "NM_182896.3",
"protein_id": "NP_878899.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 428,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Lys334Glu",
"transcript": "NM_001321328.2",
"protein_id": "NP_001308257.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 413,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.994A>G",
"hgvs_p": "p.Lys332Glu",
"transcript": "ENST00000679872.1",
"protein_id": "ENSP00000505607.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 411,
"cds_start": 994,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu",
"transcript": "NM_001410782.1",
"protein_id": "NP_001397711.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 405,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu",
"transcript": "ENST00000679587.1",
"protein_id": "ENSP00000505396.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 405,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Lys324Glu",
"transcript": "ENST00000679404.1",
"protein_id": "ENSP00000505252.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 403,
"cds_start": 970,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1588,
"cdna_end": null,
"cdna_length": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Lys324Glu",
"transcript": "ENST00000681655.1",
"protein_id": "ENSP00000505036.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 403,
"cds_start": 970,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "NM_001174151.2",
"protein_id": "NP_001167622.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 325,
"cds_start": 736,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Lys242Glu",
"transcript": "NM_144996.4",
"protein_id": "NP_659433.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 321,
"cds_start": 724,
"cds_end": null,
"cds_length": 966,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Lys225Glu",
"transcript": "ENST00000679666.1",
"protein_id": "ENSP00000506469.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 304,
"cds_start": 673,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Lys242Glu",
"transcript": "NM_001437443.1",
"protein_id": "NP_001424372.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 298,
"cds_start": 724,
"cds_end": null,
"cds_length": 897,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.724A>G",
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"hgvs_c": "n.*453A>G",
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"transcript": "ENST00000681013.1",
"protein_id": "ENSP00000506243.1",
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"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": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*453A>G",
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"transcript": "ENST00000681247.1",
"protein_id": "ENSP00000505168.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "DHFR2",
"gene_hgnc_id": 27309,
"hgvs_c": "n.290-1248T>C",
"hgvs_p": null,
"transcript": "ENST00000481631.1",
"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": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"dbsnp": "rs139063474",
"frequency_reference_population": 0.00067232415,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1080,
"gnomad_exomes_af": 0.000692461,
"gnomad_genomes_af": 0.00047984,
"gnomad_exomes_ac": 1007,
"gnomad_genomes_ac": 73,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02589493989944458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.2443,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.43,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394222.8",
"gene_symbol": "ARL13B",
"hgnc_id": 25419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Lys349Glu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000481631.1",
"gene_symbol": "DHFR2",
"hgnc_id": 27309,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.290-1248T>C",
"hgvs_p": null
}
],
"clinvar_disease": "ARL13B-related disorder,Joubert syndrome 8,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "ARL13B-related disorder|not specified|Joubert syndrome 8",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}