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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: 16-53605596-GA-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53605596&ref=GA&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RPGRIP1L",
"hgnc_id": 29168,
"hgvs_c": "c.3719_3720delTCinsCG",
"hgvs_p": "p.Val1240Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015272.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "V",
"aa_start": 1240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 3784,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3719,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015272.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3719_3720delTCinsCG",
"hgvs_p": "p.Val1240Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647211.2",
"protein_coding": true,
"protein_id": "NP_056087.2",
"strand": false,
"transcript": "NM_015272.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "V",
"aa_start": 1240,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": 3784,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3719,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647211.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3719_3720delTCinsCG",
"hgvs_p": "p.Val1240Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015272.5",
"protein_coding": true,
"protein_id": "ENSP00000493946.1",
"strand": false,
"transcript": "ENST00000647211.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "V",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3617,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563746.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3617_3618delTCinsCG",
"hgvs_p": "p.Val1206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457889.1",
"strand": false,
"transcript": "ENST00000563746.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "V",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 3628,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3581,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621565.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3581_3582delTCinsCG",
"hgvs_p": "p.Val1194Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480698.1",
"strand": false,
"transcript": "ENST00000621565.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "V",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7833,
"cdna_start": 3682,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3617,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330538.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3617_3618delTCinsCG",
"hgvs_p": "p.Val1206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317467.1",
"strand": false,
"transcript": "NM_001330538.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "V",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4488,
"cdna_start": 3641,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944945.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3593_3594delTCinsCG",
"hgvs_p": "p.Val1198Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615004.1",
"strand": false,
"transcript": "ENST00000944945.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "V",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7797,
"cdna_start": 3646,
"cds_end": null,
"cds_length": 3810,
"cds_start": 3581,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308334.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3581_3582delTCinsCG",
"hgvs_p": "p.Val1194Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295263.1",
"strand": false,
"transcript": "NM_001308334.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "V",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 3676,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3581,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564374.5",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3581_3582delTCinsCG",
"hgvs_p": "p.Val1194Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456534.1",
"strand": false,
"transcript": "ENST00000564374.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "V",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7695,
"cdna_start": 3544,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127897.4",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3479_3480delTCinsCG",
"hgvs_p": "p.Val1160Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121369.1",
"strand": false,
"transcript": "NM_001127897.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "V",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7725,
"cdna_start": 3574,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262135.9",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3479_3480delTCinsCG",
"hgvs_p": "p.Val1160Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262135.4",
"strand": false,
"transcript": "ENST00000262135.9",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "V",
"aa_start": 1132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3395,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935860.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3395_3396delTCinsCG",
"hgvs_p": "p.Val1132Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605919.1",
"strand": false,
"transcript": "ENST00000935860.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "V",
"aa_start": 1244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8195,
"cdna_start": 4044,
"cds_end": null,
"cds_length": 3960,
"cds_start": 3731,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433869.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3731_3732delTCinsCG",
"hgvs_p": "p.Val1244Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289825.1",
"strand": false,
"transcript": "XM_047433869.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "V",
"aa_start": 1240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8183,
"cdna_start": 4032,
"cds_end": null,
"cds_length": 3948,
"cds_start": 3719,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433870.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3719_3720delTCinsCG",
"hgvs_p": "p.Val1240Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289826.1",
"strand": false,
"transcript": "XM_047433870.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "V",
"aa_start": 1206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8081,
"cdna_start": 3930,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3617,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433871.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3617_3618delTCinsCG",
"hgvs_p": "p.Val1206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289827.1",
"strand": false,
"transcript": "XM_047433871.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "V",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7809,
"cdna_start": 3658,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005255868.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3593_3594delTCinsCG",
"hgvs_p": "p.Val1198Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255925.1",
"strand": false,
"transcript": "XM_005255868.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "V",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7707,
"cdna_start": 3556,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3491,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023095.3",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3491_3492delTCinsCG",
"hgvs_p": "p.Val1164Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878584.1",
"strand": false,
"transcript": "XM_017023095.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "V",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7943,
"cdna_start": 3792,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047433872.1",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.3479_3480delTCinsCG",
"hgvs_p": "p.Val1160Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289828.1",
"strand": false,
"transcript": "XM_047433872.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6876,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023098.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.1964_1965delTCinsCG",
"hgvs_p": "p.Val655Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878587.1",
"strand": false,
"transcript": "XM_017023098.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 730,
"aa_ref": "V",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6236,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1964,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023099.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "c.1964_1965delTCinsCG",
"hgvs_p": "p.Val655Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878588.1",
"strand": false,
"transcript": "XM_017023099.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7194,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000565343.2",
"gene_hgnc_id": 29168,
"gene_symbol": "RPGRIP1L",
"hgvs_c": "n.4143_4144delTCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000565343.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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}