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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: 14-74907530-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74907530&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74907530,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001370252.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "NM_031464.5",
"protein_id": "NP_113652.2",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557413.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031464.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000557413.6",
"protein_id": "ENSP00000450567.1",
"transcript_support_level": 5,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031464.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557413.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "n.1351G>T",
"hgvs_p": null,
"transcript": "ENST00000555009.5",
"protein_id": "ENSP00000450660.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000555009.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1G>T",
"hgvs_p": "p.Ala1Ser",
"transcript": "ENST00000553315.1",
"protein_id": "ENSP00000450968.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 45,
"cds_start": 1,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553315.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "NM_001370252.1",
"protein_id": "NP_001357181.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 565,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370252.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1492G>T",
"hgvs_p": "p.Ala498Ser",
"transcript": "ENST00000961459.1",
"protein_id": "ENSP00000631518.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 565,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961459.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000354625.6",
"protein_id": "ENSP00000346644.3",
"transcript_support_level": 2,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354625.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000555647.5",
"protein_id": "ENSP00000452027.1",
"transcript_support_level": 5,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555647.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000906485.1",
"protein_id": "ENSP00000576544.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906485.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000906486.1",
"protein_id": "ENSP00000576545.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906486.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000920813.1",
"protein_id": "ENSP00000590872.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920813.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000961448.1",
"protein_id": "ENSP00000631507.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961448.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"transcript": "ENST00000961458.1",
"protein_id": "ENSP00000631517.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 549,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961458.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1399G>T",
"hgvs_p": "p.Ala467Ser",
"transcript": "ENST00000961452.1",
"protein_id": "ENSP00000631511.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 534,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961452.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1399G>T",
"hgvs_p": "p.Ala467Ser",
"transcript": "ENST00000961457.1",
"protein_id": "ENSP00000631516.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 534,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961457.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1396G>T",
"hgvs_p": "p.Ala466Ser",
"transcript": "ENST00000961451.1",
"protein_id": "ENSP00000631510.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 533,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961451.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1354G>T",
"hgvs_p": "p.Ala452Ser",
"transcript": "ENST00000920816.1",
"protein_id": "ENSP00000590875.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 519,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920816.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1351G>T",
"hgvs_p": "p.Ala451Ser",
"transcript": "ENST00000920814.1",
"protein_id": "ENSP00000590873.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 518,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920814.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1351G>T",
"hgvs_p": "p.Ala451Ser",
"transcript": "ENST00000920815.1",
"protein_id": "ENSP00000590874.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 518,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920815.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1351G>T",
"hgvs_p": "p.Ala451Ser",
"transcript": "ENST00000961450.1",
"protein_id": "ENSP00000631509.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 518,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961450.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"hgvs_c": "c.1351G>T",
"hgvs_p": "p.Ala451Ser",
"transcript": "ENST00000961453.1",
"protein_id": "ENSP00000631512.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 518,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961453.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.271G>T",
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"transcript": "ENST00000556848.5",
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"transcript_support_level": 2,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000556848.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.2053G>T",
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"transcript": "NR_163404.1",
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"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163404.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.2053G>T",
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"transcript": "NR_163405.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163405.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "RPS6KL1",
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"hgvs_c": "n.1836G>T",
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"transcript": "NR_163406.1",
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"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": "NR_163406.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KL1",
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"hgvs_c": "c.-75G>T",
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"transcript": "ENST00000555910.5",
"protein_id": "ENSP00000451986.1",
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"aa_end": null,
"aa_length": 47,
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"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555910.5"
}
],
"gene_symbol": "RPS6KL1",
"gene_hgnc_id": 20222,
"dbsnp": "rs1330135650",
"frequency_reference_population": 0.000002116205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000211621,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22619116306304932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9200000166893005,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.997,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.33,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999257242166016,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370252.1",
"gene_symbol": "RPS6KL1",
"hgnc_id": 20222,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser"
}
],
"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
}