← 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: 6-166413885-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166413885&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPS6KA2",
"hgnc_id": 10431,
"hgvs_c": "c.2060C>T",
"hgvs_p": "p.Thr687Met",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001318936.2",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124901460",
"hgnc_id": null,
"hgvs_c": "n.764+236G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "XR_007059866.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 57,
"alphamissense_prediction": null,
"alphamissense_score": 0.1841,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8948085308074951,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 733,
"aa_ref": "T",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5832,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_021135.6",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1985C>T",
"hgvs_p": "p.Thr662Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265678.9",
"protein_coding": true,
"protein_id": "NP_066958.2",
"strand": false,
"transcript": "NM_021135.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 733,
"aa_ref": "T",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5832,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000265678.9",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1985C>T",
"hgvs_p": "p.Thr662Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021135.6",
"protein_coding": true,
"protein_id": "ENSP00000265678.4",
"strand": false,
"transcript": "ENST00000265678.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 644,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000481261.6",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Thr573Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422484.1",
"strand": false,
"transcript": "ENST00000481261.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000509742.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "n.521C>T",
"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": "ENST00000509742.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 758,
"aa_ref": "T",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6030,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001318936.2",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.2060C>T",
"hgvs_p": "p.Thr687Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305865.2",
"strand": false,
"transcript": "NM_001318936.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 758,
"aa_ref": "T",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5992,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000510118.5",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.2060C>T",
"hgvs_p": "p.Thr687Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422435.1",
"strand": false,
"transcript": "ENST00000510118.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 758,
"aa_ref": "T",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5925,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000967274.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.2060C>T",
"hgvs_p": "p.Thr687Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637333.1",
"strand": false,
"transcript": "ENST00000967274.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 741,
"aa_ref": "T",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5979,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 2226,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001006932.3",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Thr670Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006933.3",
"strand": false,
"transcript": "NM_001006932.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 741,
"aa_ref": "T",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2226,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000503859.5",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.2009C>T",
"hgvs_p": "p.Thr670Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427015.1",
"strand": false,
"transcript": "ENST00000503859.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 722,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 2118,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1952,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000907318.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1952C>T",
"hgvs_p": "p.Thr651Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577377.1",
"strand": false,
"transcript": "ENST00000907318.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 717,
"aa_ref": "T",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5552,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000714395.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Thr646Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519662.1",
"strand": false,
"transcript": "ENST00000714395.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 703,
"aa_ref": "T",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000907315.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Thr632Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577374.1",
"strand": false,
"transcript": "ENST00000907315.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "T",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1865,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000907314.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1865C>T",
"hgvs_p": "p.Thr622Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577373.1",
"strand": false,
"transcript": "ENST00000907314.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 679,
"aa_ref": "T",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000935351.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1823C>T",
"hgvs_p": "p.Thr608Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605410.1",
"strand": false,
"transcript": "ENST00000935351.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 668,
"aa_ref": "T",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907313.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1790C>T",
"hgvs_p": "p.Thr597Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577372.1",
"strand": false,
"transcript": "ENST00000907313.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 664,
"aa_ref": "T",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1778,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907317.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1778C>T",
"hgvs_p": "p.Thr593Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577376.1",
"strand": false,
"transcript": "ENST00000907317.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 650,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3743,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000907316.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577375.1",
"strand": false,
"transcript": "ENST00000907316.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 644,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5592,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001318938.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Thr573Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305867.1",
"strand": false,
"transcript": "NM_001318938.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 644,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 2051,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000405189.7",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Thr573Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386050.3",
"strand": false,
"transcript": "ENST00000405189.7",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 635,
"aa_ref": "T",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5687,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001318937.2",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1691C>T",
"hgvs_p": "p.Thr564Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305866.1",
"strand": false,
"transcript": "NM_001318937.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 761,
"aa_ref": "T",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5916,
"cdna_start": 2301,
"cds_end": null,
"cds_length": 2286,
"cds_start": 2069,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_006715549.4",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.2069C>T",
"hgvs_p": "p.Thr690Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715612.1",
"strand": false,
"transcript": "XM_006715549.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5655,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1979,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047419233.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Thr660Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275189.1",
"strand": false,
"transcript": "XM_047419233.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 717,
"aa_ref": "T",
"aa_start": 646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5881,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1937,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047419234.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Thr646Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275190.1",
"strand": false,
"transcript": "XM_047419234.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 644,
"aa_ref": "T",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5717,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047419235.1",
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"hgvs_c": "c.1718C>T",
"hgvs_p": "p.Thr573Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275191.1",
"strand": false,
"transcript": "XM_047419235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 877,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007059866.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124901460",
"hgvs_c": "n.764+236G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007059866.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs760448739",
"effect": "missense_variant",
"frequency_reference_population": 0.000035317822,
"gene_hgnc_id": 10431,
"gene_symbol": "RPS6KA2",
"gnomad_exomes_ac": 54,
"gnomad_exomes_af": 0.0000369434,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197081,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.289,
"pos": 166413885,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.518,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001318936.2"
}
]
}