← Back to variant description
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: 3-94049424-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=94049424&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 94049424,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394222.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"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.1043C>G",
"hgvs_p": "p.Thr348Ser",
"transcript": "NM_001174150.2",
"protein_id": "NP_001167621.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 428,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "ENST00000394222.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1043C>G",
"hgvs_p": "p.Thr348Ser",
"transcript": "ENST00000394222.8",
"protein_id": "ENSP00000377769.3",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 428,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "NM_001174150.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1043C>G",
"hgvs_p": "p.Thr348Ser",
"transcript": "ENST00000471138.5",
"protein_id": "ENSP00000420780.1",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 428,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.734C>G",
"hgvs_p": "p.Thr245Ser",
"transcript": "ENST00000535334.5",
"protein_id": "ENSP00000445145.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.722C>G",
"hgvs_p": "p.Thr241Ser",
"transcript": "ENST00000303097.11",
"protein_id": "ENSP00000306225.7",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 321,
"cds_start": 722,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1004,
"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.*895C>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.*516C>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.*895C>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.*516C>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": "T",
"aa_alt": "S",
"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.1130C>G",
"hgvs_p": "p.Thr377Ser",
"transcript": "ENST00000681380.1",
"protein_id": "ENSP00000505402.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 457,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1043C>G",
"hgvs_p": "p.Thr348Ser",
"transcript": "NM_182896.3",
"protein_id": "NP_878899.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 428,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.998C>G",
"hgvs_p": "p.Thr333Ser",
"transcript": "NM_001321328.2",
"protein_id": "NP_001308257.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 413,
"cds_start": 998,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.992C>G",
"hgvs_p": "p.Thr331Ser",
"transcript": "ENST00000679872.1",
"protein_id": "ENSP00000505607.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 411,
"cds_start": 992,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1043C>G",
"hgvs_p": "p.Thr348Ser",
"transcript": "NM_001410782.1",
"protein_id": "NP_001397711.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 405,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1043C>G",
"hgvs_p": "p.Thr348Ser",
"transcript": "ENST00000679587.1",
"protein_id": "ENSP00000505396.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 405,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000679404.1",
"protein_id": "ENSP00000505252.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 403,
"cds_start": 968,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "ENST00000681655.1",
"protein_id": "ENSP00000505036.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 403,
"cds_start": 968,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.734C>G",
"hgvs_p": "p.Thr245Ser",
"transcript": "NM_001174151.2",
"protein_id": "NP_001167622.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.722C>G",
"hgvs_p": "p.Thr241Ser",
"transcript": "NM_144996.4",
"protein_id": "NP_659433.2",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 321,
"cds_start": 722,
"cds_end": null,
"cds_length": 966,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.671C>G",
"hgvs_p": "p.Thr224Ser",
"transcript": "ENST00000679666.1",
"protein_id": "ENSP00000506469.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 304,
"cds_start": 671,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.722C>G",
"hgvs_p": "p.Thr241Ser",
"transcript": "NM_001437443.1",
"protein_id": "NP_001424372.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 298,
"cds_start": 722,
"cds_end": null,
"cds_length": 897,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.722C>G",
"hgvs_p": "p.Thr241Ser",
"transcript": "ENST00000486562.2",
"protein_id": "ENSP00000505366.1",
"transcript_support_level": 3,
"aa_start": 241,
"aa_end": null,
"aa_length": 298,
"cds_start": 722,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.206C>G",
"hgvs_p": "p.Thr69Ser",
"transcript": "ENST00000679607.1",
"protein_id": "ENSP00000505148.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 149,
"cds_start": 206,
"cds_end": null,
"cds_length": 450,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1007C>G",
"hgvs_p": "p.Thr336Ser",
"transcript": "XM_011512532.3",
"protein_id": "XP_011510834.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 416,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.1007C>G",
"hgvs_p": "p.Thr336Ser",
"transcript": "XM_011512533.3",
"protein_id": "XP_011510835.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 416,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.998C>G",
"hgvs_p": "p.Thr333Ser",
"transcript": "XM_006713532.4",
"protein_id": "XP_006713595.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 413,
"cds_start": 998,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 4108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.968C>G",
"hgvs_p": "p.Thr323Ser",
"transcript": "XM_011512535.3",
"protein_id": "XP_011510837.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 403,
"cds_start": 968,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"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.734C>G",
"hgvs_p": "p.Thr245Ser",
"transcript": "XM_017005853.2",
"protein_id": "XP_016861342.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 325,
"cds_start": 734,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 4028,
"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.*895C>G",
"hgvs_p": null,
"transcript": "ENST00000679601.1",
"protein_id": "ENSP00000506200.1",
"transcript_support_level": null,
"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": 3564,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*651C>G",
"hgvs_p": null,
"transcript": "ENST00000679654.1",
"protein_id": "ENSP00000505178.1",
"transcript_support_level": null,
"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": 3349,
"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.*451C>G",
"hgvs_p": null,
"transcript": "ENST00000679739.1",
"protein_id": "ENSP00000506703.1",
"transcript_support_level": null,
"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": 3341,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*789C>G",
"hgvs_p": null,
"transcript": "ENST00000680414.1",
"protein_id": "ENSP00000506063.1",
"transcript_support_level": null,
"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": 3468,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*980C>G",
"hgvs_p": null,
"transcript": "ENST00000680430.1",
"protein_id": "ENSP00000504943.1",
"transcript_support_level": null,
"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": 3521,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.1073C>G",
"hgvs_p": null,
"transcript": "ENST00000680994.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3267,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*451C>G",
"hgvs_p": null,
"transcript": "ENST00000681013.1",
"protein_id": "ENSP00000506243.1",
"transcript_support_level": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*451C>G",
"hgvs_p": null,
"transcript": "ENST00000681247.1",
"protein_id": "ENSP00000505168.1",
"transcript_support_level": null,
"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": 3127,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.1375C>G",
"hgvs_p": null,
"transcript": "ENST00000681377.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3489,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.1067C>G",
"hgvs_p": null,
"transcript": "NR_033427.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3726,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.1058C>G",
"hgvs_p": null,
"transcript": "NR_135621.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3717,
"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_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.-14C>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": 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.*895C>G",
"hgvs_p": null,
"transcript": "ENST00000679601.1",
"protein_id": "ENSP00000506200.1",
"transcript_support_level": null,
"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": 3564,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*651C>G",
"hgvs_p": null,
"transcript": "ENST00000679654.1",
"protein_id": "ENSP00000505178.1",
"transcript_support_level": null,
"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": 3349,
"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.*451C>G",
"hgvs_p": null,
"transcript": "ENST00000679739.1",
"protein_id": "ENSP00000506703.1",
"transcript_support_level": null,
"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": 3341,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*789C>G",
"hgvs_p": null,
"transcript": "ENST00000680414.1",
"protein_id": "ENSP00000506063.1",
"transcript_support_level": null,
"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": 3468,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*980C>G",
"hgvs_p": null,
"transcript": "ENST00000680430.1",
"protein_id": "ENSP00000504943.1",
"transcript_support_level": null,
"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": 3521,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*451C>G",
"hgvs_p": null,
"transcript": "ENST00000681013.1",
"protein_id": "ENSP00000506243.1",
"transcript_support_level": null,
"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,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*451C>G",
"hgvs_p": null,
"transcript": "ENST00000681247.1",
"protein_id": "ENSP00000505168.1",
"transcript_support_level": null,
"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": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DHFR2",
"gene_hgnc_id": 27309,
"hgvs_c": "n.290-1246G>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": "rs33944211",
"frequency_reference_population": 0.10538049,
"hom_count_reference_population": 9697,
"allele_count_reference_population": 168754,
"gnomad_exomes_af": 0.107889,
"gnomad_genomes_af": 0.0814105,
"gnomad_exomes_ac": 156405,
"gnomad_genomes_ac": 12349,
"gnomad_exomes_homalt": 9071,
"gnomad_genomes_homalt": 626,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0016124546527862549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.254,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000394222.8",
"gene_symbol": "ARL13B",
"hgnc_id": 25419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Thr348Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000481631.1",
"gene_symbol": "DHFR2",
"hgnc_id": 27309,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.290-1246G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Joubert syndrome 8,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Joubert syndrome 8|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}