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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: 9-19376387-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19376387&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19376387,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001010.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"transcript": "NM_001010.3",
"protein_id": "NP_001001.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 249,
"cds_start": 656,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380394.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.656A>C",
"hgvs_p": "p.Glu219Ala",
"transcript": "ENST00000380394.9",
"protein_id": "ENSP00000369757.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 249,
"cds_start": 656,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380394.9"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.563A>C",
"hgvs_p": "p.Glu188Ala",
"transcript": "ENST00000380384.5",
"protein_id": "ENSP00000369745.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 218,
"cds_start": 563,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380384.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.680A>C",
"hgvs_p": "p.Glu227Ala",
"transcript": "ENST00000889073.1",
"protein_id": "ENSP00000559132.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 257,
"cds_start": 680,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889073.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.659A>C",
"hgvs_p": "p.Glu220Ala",
"transcript": "ENST00000948752.1",
"protein_id": "ENSP00000618811.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 250,
"cds_start": 659,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948752.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Glu218Ala",
"transcript": "ENST00000889074.1",
"protein_id": "ENSP00000559133.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 248,
"cds_start": 653,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889074.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.635A>C",
"hgvs_p": "p.Glu212Ala",
"transcript": "ENST00000919422.1",
"protein_id": "ENSP00000589481.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 242,
"cds_start": 635,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919422.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.602A>C",
"hgvs_p": "p.Glu201Ala",
"transcript": "ENST00000889075.1",
"protein_id": "ENSP00000559134.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 231,
"cds_start": 602,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889075.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.599A>C",
"hgvs_p": "p.Glu200Ala",
"transcript": "ENST00000889072.1",
"protein_id": "ENSP00000559131.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 230,
"cds_start": 599,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889072.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "ENST00000919427.1",
"protein_id": "ENSP00000589486.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 228,
"cds_start": 593,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919427.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.569A>C",
"hgvs_p": "p.Glu190Ala",
"transcript": "ENST00000948750.1",
"protein_id": "ENSP00000618809.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 220,
"cds_start": 569,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948750.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.566A>C",
"hgvs_p": "p.Glu189Ala",
"transcript": "ENST00000919421.1",
"protein_id": "ENSP00000589480.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 219,
"cds_start": 566,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919421.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.563A>C",
"hgvs_p": "p.Glu188Ala",
"transcript": "ENST00000315377.4",
"protein_id": "ENSP00000369743.1",
"transcript_support_level": 3,
"aa_start": 188,
"aa_end": null,
"aa_length": 218,
"cds_start": 563,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315377.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Glu185Ala",
"transcript": "ENST00000919425.1",
"protein_id": "ENSP00000589484.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 215,
"cds_start": 554,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919425.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.539A>C",
"hgvs_p": "p.Glu180Ala",
"transcript": "ENST00000919424.1",
"protein_id": "ENSP00000589483.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 210,
"cds_start": 539,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919424.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.524A>C",
"hgvs_p": "p.Glu175Ala",
"transcript": "ENST00000889076.1",
"protein_id": "ENSP00000559135.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 205,
"cds_start": 524,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889076.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.521A>C",
"hgvs_p": "p.Glu174Ala",
"transcript": "ENST00000919420.1",
"protein_id": "ENSP00000589479.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 204,
"cds_start": 521,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919420.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000889077.1",
"protein_id": "ENSP00000559136.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 200,
"cds_start": 509,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889077.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.437A>C",
"hgvs_p": "p.Glu146Ala",
"transcript": "ENST00000919419.1",
"protein_id": "ENSP00000589478.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 176,
"cds_start": 437,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919419.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.236A>C",
"hgvs_p": "p.Glu79Ala",
"transcript": "ENST00000919426.1",
"protein_id": "ENSP00000589485.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 109,
"cds_start": 236,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919426.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.140A>C",
"hgvs_p": "p.Glu47Ala",
"transcript": "ENST00000948754.1",
"protein_id": "ENSP00000618813.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 77,
"cds_start": 140,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948754.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.104A>C",
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84109e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6413884162902832,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.843999981880188,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.398,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8163,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.955,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.736349679116246,
"dbscsnv_ada_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "NM_001010.3",
"gene_symbol": "RPS6",
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"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}