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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: 2-105093629-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=105093629&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPS9",
"hgnc_id": 14501,
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_182640.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MRPS9-AS1",
"hgnc_id": 40688,
"hgvs_c": "n.754-1049G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000669390.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1025,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1276223361492157,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "T",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1191,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_182640.3",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258455.8",
"protein_coding": true,
"protein_id": "NP_872578.1",
"strand": true,
"transcript": "NM_182640.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "T",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1191,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000258455.8",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182640.3",
"protein_coding": true,
"protein_id": "ENSP00000258455.3",
"strand": true,
"transcript": "ENST00000258455.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 403,
"aa_ref": "T",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1212,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886286.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556345.1",
"strand": true,
"transcript": "ENST00000886286.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "T",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1191,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925255.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.920C>G",
"hgvs_p": "p.Thr307Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595314.1",
"strand": true,
"transcript": "ENST00000925255.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "T",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1432,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1182,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925256.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Thr304Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595315.1",
"strand": true,
"transcript": "ENST00000925256.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 375,
"aa_ref": "T",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1128,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925257.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Thr286Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595316.1",
"strand": true,
"transcript": "ENST00000925257.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "T",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1351,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1098,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886284.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.827C>G",
"hgvs_p": "p.Thr276Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556343.1",
"strand": true,
"transcript": "ENST00000886284.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 364,
"aa_ref": "T",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1317,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1095,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886285.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Thr275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556344.1",
"strand": true,
"transcript": "ENST00000886285.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 345,
"aa_ref": "T",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1038,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925259.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595318.1",
"strand": true,
"transcript": "ENST00000925259.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 342,
"aa_ref": "T",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1029,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886289.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.758C>G",
"hgvs_p": "p.Thr253Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556348.1",
"strand": true,
"transcript": "ENST00000886289.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1017,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886287.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.746C>G",
"hgvs_p": "p.Thr249Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556346.1",
"strand": true,
"transcript": "ENST00000886287.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 336,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1011,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886288.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Thr247Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556347.1",
"strand": true,
"transcript": "ENST00000886288.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 278,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 590,
"cds_end": null,
"cds_length": 837,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925258.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.566C>G",
"hgvs_p": "p.Thr189Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595317.1",
"strand": true,
"transcript": "ENST00000925258.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 272,
"aa_ref": "T",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": 752,
"cds_end": null,
"cds_length": 819,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011511644.3",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "c.548C>G",
"hgvs_p": "p.Thr183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509946.1",
"strand": true,
"transcript": "XM_011511644.3",
"transcript_support_level": null
},
{
"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": 652,
"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": "ENST00000413583.5",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "n.*336C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388885.1",
"strand": true,
"transcript": "ENST00000413583.5",
"transcript_support_level": 3
},
{
"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": 982,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000472220.1",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "n.572C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000472220.1",
"transcript_support_level": 2
},
{
"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": 652,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000413583.5",
"gene_hgnc_id": 14501,
"gene_symbol": "MRPS9",
"hgvs_c": "n.*336C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388885.1",
"strand": true,
"transcript": "ENST00000413583.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000669390.1",
"gene_hgnc_id": 40688,
"gene_symbol": "MRPS9-AS1",
"hgvs_c": "n.754-1049G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000669390.1",
"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": 722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000791480.1",
"gene_hgnc_id": 40688,
"gene_symbol": "MRPS9-AS1",
"hgvs_c": "n.432+3510G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000791480.1",
"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": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000791481.1",
"gene_hgnc_id": 40688,
"gene_symbol": "MRPS9-AS1",
"hgvs_c": "n.1249-1049G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000791481.1",
"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": 885,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
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{
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]
}