← 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: 16-53664957-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53664957&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53664957,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000647211.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "NM_015272.5",
"protein_id": "NP_056087.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "ENST00000647211.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "ENST00000647211.2",
"protein_id": "ENSP00000493946.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": "NM_015272.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "ENST00000563746.5",
"protein_id": "ENSP00000457889.1",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "ENST00000621565.5",
"protein_id": "ENSP00000480698.1",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "NM_001330538.2",
"protein_id": "NP_001317467.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "NM_001308334.3",
"protein_id": "NP_001295263.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1269,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "ENST00000564374.5",
"protein_id": "ENSP00000456534.1",
"transcript_support_level": 2,
"aa_start": 386,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "NM_001127897.4",
"protein_id": "NP_001121369.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "ENST00000262135.9",
"protein_id": "ENSP00000262135.4",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 7725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433869.1",
"protein_id": "XP_047289825.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1319,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433870.1",
"protein_id": "XP_047289826.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1315,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 8183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433871.1",
"protein_id": "XP_047289827.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1281,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 8081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_005255868.3",
"protein_id": "XP_005255925.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_017023095.3",
"protein_id": "XP_016878584.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433872.1",
"protein_id": "XP_047289828.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433873.1",
"protein_id": "XP_047289829.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_011522970.3",
"protein_id": "XP_011521272.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433874.1",
"protein_id": "XP_047289830.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 8520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_011522971.4",
"protein_id": "XP_011521273.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 6456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433875.1",
"protein_id": "XP_047289831.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 6453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_011522973.4",
"protein_id": "XP_011521275.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433876.1",
"protein_id": "XP_047289832.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433877.1",
"protein_id": "XP_047289833.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433878.1",
"protein_id": "XP_047289834.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1097,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433879.1",
"protein_id": "XP_047289835.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433880.1",
"protein_id": "XP_047289836.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1074,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_047433881.1",
"protein_id": "XP_047289837.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1070,
"cds_start": 1156,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_017023097.3",
"protein_id": "XP_016878586.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 787,
"cds_start": 1156,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu",
"transcript": "XM_017023100.3",
"protein_id": "XP_016878589.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 578,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1156A>G",
"hgvs_p": null,
"transcript": "ENST00000680193.1",
"protein_id": "ENSP00000506379.1",
"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": 6903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1199A>G",
"hgvs_p": null,
"transcript": "ENST00000680907.1",
"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": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1220A>G",
"hgvs_p": null,
"transcript": "XR_007064860.1",
"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": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1220A>G",
"hgvs_p": null,
"transcript": "XR_007064861.1",
"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": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1220A>G",
"hgvs_p": null,
"transcript": "XR_007064862.1",
"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": 5451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"hgvs_c": "n.1220A>G",
"hgvs_p": null,
"transcript": "XR_933260.4",
"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": 4036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPGRIP1L",
"gene_hgnc_id": 29168,
"dbsnp": "rs137982921",
"frequency_reference_population": 0.0011756263,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1897,
"gnomad_exomes_af": 0.00119622,
"gnomad_genomes_af": 0.000978114,
"gnomad_exomes_ac": 1748,
"gnomad_genomes_ac": 149,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03133481740951538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.411,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.519,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000647211.2",
"gene_symbol": "RPGRIP1L",
"hgnc_id": 29168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Lys386Glu"
}
],
"clinvar_disease": " type 5,COACH syndrome 1,Inborn genetic diseases,Joubert syndrome,Joubert syndrome 7,Meckel syndrome,Meckel-Gruber syndrome,Nephronophthisis 8,Optic atrophy,RPGRIP1L-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:10 LB:2",
"phenotype_combined": "Meckel syndrome, type 5|Joubert syndrome 7|Nephronophthisis 8|Joubert syndrome;Meckel-Gruber syndrome|not provided|Meckel syndrome, type 5;COACH syndrome 1;Joubert syndrome 7|Joubert syndrome|Inborn genetic diseases|RPGRIP1L-related disorder|Optic atrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}