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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: 6-166418236-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166418236&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166418236,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318936.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Asp643Asn",
"transcript": "NM_021135.6",
"protein_id": "NP_066958.2",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 733,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265678.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021135.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Asp643Asn",
"transcript": "ENST00000265678.9",
"protein_id": "ENSP00000265678.4",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 733,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265678.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Asp554Asn",
"transcript": "ENST00000481261.6",
"protein_id": "ENSP00000422484.1",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 644,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481261.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "n.463G>A",
"hgvs_p": null,
"transcript": "ENST00000509742.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509742.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Asp668Asn",
"transcript": "NM_001318936.2",
"protein_id": "NP_001305865.2",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 758,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318936.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Asp668Asn",
"transcript": "ENST00000510118.5",
"protein_id": "ENSP00000422435.1",
"transcript_support_level": 2,
"aa_start": 668,
"aa_end": null,
"aa_length": 758,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510118.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Asp668Asn",
"transcript": "ENST00000967274.1",
"protein_id": "ENSP00000637333.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 758,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967274.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Asp651Asn",
"transcript": "NM_001006932.3",
"protein_id": "NP_001006933.3",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 741,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006932.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Asp651Asn",
"transcript": "ENST00000503859.5",
"protein_id": "ENSP00000427015.1",
"transcript_support_level": 2,
"aa_start": 651,
"aa_end": null,
"aa_length": 741,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503859.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Asp632Asn",
"transcript": "ENST00000907318.1",
"protein_id": "ENSP00000577377.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 722,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907318.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1879G>A",
"hgvs_p": "p.Asp627Asn",
"transcript": "ENST00000714395.1",
"protein_id": "ENSP00000519662.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 717,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714395.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Asp613Asn",
"transcript": "ENST00000907315.1",
"protein_id": "ENSP00000577374.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 703,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907315.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Asp603Asn",
"transcript": "ENST00000907314.1",
"protein_id": "ENSP00000577373.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 693,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907314.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1765G>A",
"hgvs_p": "p.Asp589Asn",
"transcript": "ENST00000935351.1",
"protein_id": "ENSP00000605410.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 679,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935351.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Asp574Asn",
"transcript": "ENST00000907317.1",
"protein_id": "ENSP00000577376.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 664,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907317.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1678G>A",
"hgvs_p": "p.Asp560Asn",
"transcript": "ENST00000907316.1",
"protein_id": "ENSP00000577375.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 650,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907316.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Asp554Asn",
"transcript": "NM_001318938.1",
"protein_id": "NP_001305867.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 644,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318938.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Asp554Asn",
"transcript": "ENST00000405189.7",
"protein_id": "ENSP00000386050.3",
"transcript_support_level": 2,
"aa_start": 554,
"aa_end": null,
"aa_length": 644,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405189.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Asp545Asn",
"transcript": "NM_001318937.2",
"protein_id": "NP_001305866.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 635,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318937.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2011G>A",
"hgvs_p": "p.Asp671Asn",
"transcript": "XM_006715549.4",
"protein_id": "XP_006715612.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 761,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715549.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn",
"transcript": "XM_047419233.1",
"protein_id": "XP_047275189.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 731,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419233.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1879G>A",
"hgvs_p": "p.Asp627Asn",
"transcript": "XM_047419234.1",
"protein_id": "XP_047275190.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 717,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419234.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Asp554Asn",
"transcript": "XM_047419235.1",
"protein_id": "XP_047275191.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 644,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1744-4305G>A",
"hgvs_p": null,
"transcript": "ENST00000907313.1",
"protein_id": "ENSP00000577372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124901460",
"gene_hgnc_id": null,
"hgvs_c": "n.765-3405C>T",
"hgvs_p": null,
"transcript": "XR_007059866.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059866.1"
}
],
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"dbsnp": "rs201987457",
"frequency_reference_population": 0.0000018675903,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000137548,
"gnomad_genomes_af": 0.00000656547,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13008174300193787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.94,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318936.2",
"gene_symbol": "RPS6KA2",
"hgnc_id": 10431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Asp668Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007059866.1",
"gene_symbol": "LOC124901460",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.765-3405C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}