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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: 3-139350182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=139350182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPS22",
"hgnc_id": 14508,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_020191.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM5,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.7186,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9414815902709961,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1083,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_020191.4",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000680020.1",
"protein_coding": true,
"protein_id": "NP_064576.1",
"strand": true,
"transcript": "NM_020191.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1083,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680020.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020191.4",
"protein_coding": true,
"protein_id": "ENSP00000505414.1",
"strand": true,
"transcript": "ENST00000680020.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1083,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000495075.5",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418008.1",
"strand": true,
"transcript": "ENST00000495075.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1080,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000310776.9",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310785.5",
"strand": true,
"transcript": "ENST00000310776.9",
"transcript_support_level": 1
},
{
"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": 5584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000492644.2",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "n.522C>T",
"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": "ENST00000492644.2",
"transcript_support_level": 1
},
{
"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": 1401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000498505.5",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "n.*105C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420482.1",
"strand": true,
"transcript": "ENST00000498505.5",
"transcript_support_level": 1
},
{
"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": 1401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000498505.5",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "n.*105C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000420482.1",
"strand": true,
"transcript": "ENST00000498505.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1266,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871207.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541266.1",
"strand": true,
"transcript": "ENST00000871207.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5125,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1083,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000688697.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510396.1",
"strand": true,
"transcript": "ENST00000688697.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1239,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1080,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363893.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350822.1",
"strand": true,
"transcript": "NM_001363893.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 342,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 521,
"cds_end": null,
"cds_length": 1029,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000686433.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509173.1",
"strand": true,
"transcript": "ENST00000686433.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1077,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1026,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000871206.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541265.1",
"strand": true,
"transcript": "ENST00000871206.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 332,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3246,
"cdna_start": 508,
"cds_end": null,
"cds_length": 999,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000691070.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509723.1",
"strand": true,
"transcript": "ENST00000691070.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 512,
"cds_end": null,
"cds_length": 996,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938299.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608358.1",
"strand": true,
"transcript": "ENST00000938299.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 329,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 515,
"cds_end": null,
"cds_length": 990,
"cds_start": 508,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000480644.2",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420229.2",
"strand": true,
"transcript": "ENST00000480644.2",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 504,
"cds_end": null,
"cds_length": 960,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363857.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Arg129Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350786.1",
"strand": true,
"transcript": "NM_001363857.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 290,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 490,
"cds_end": null,
"cds_length": 873,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478464.6",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Arg100Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419303.2",
"strand": true,
"transcript": "ENST00000478464.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 290,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4794,
"cdna_start": 932,
"cds_end": null,
"cds_length": 873,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000687538.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Arg100Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508887.1",
"strand": true,
"transcript": "ENST00000687538.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 290,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": 815,
"cds_end": null,
"cds_length": 873,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000689286.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Arg100Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509897.1",
"strand": true,
"transcript": "ENST00000689286.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4338,
"cdna_start": 476,
"cds_end": null,
"cds_length": 702,
"cds_start": 127,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684961.1",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Arg43Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508439.1",
"strand": true,
"transcript": "ENST00000684961.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 199,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 523,
"cds_end": null,
"cds_length": 600,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000465373.5",
"gene_hgnc_id": 14508,
"gene_symbol": "MRPS22",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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}