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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: 19-55388016-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55388016&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPL28",
"hgnc_id": 10330,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001363697.1",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MIR6805",
"hgnc_id": 50215,
"hgvs_c": "n.-165C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NR_106863.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.3354,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "19",
"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": 0.28571075201034546,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 334,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000991.5",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344063.7",
"protein_coding": true,
"protein_id": "NP_000982.2",
"strand": true,
"transcript": "NM_000991.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 334,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000344063.7",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000991.5",
"protein_coding": true,
"protein_id": "ENSP00000342787.3",
"strand": true,
"transcript": "ENST00000344063.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 852,
"cdna_start": 689,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000559463.5",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453319.1",
"strand": true,
"transcript": "ENST00000559463.5",
"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": 5620,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000426763.3",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "n.1536C>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": "ENST00000426763.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 170,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": 334,
"cds_end": null,
"cds_length": 513,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001363697.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350626.1",
"strand": true,
"transcript": "NM_001363697.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 170,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": 330,
"cds_end": null,
"cds_length": 513,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000560055.5",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452763.1",
"strand": true,
"transcript": "ENST00000560055.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 169,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 898,
"cdna_start": 334,
"cds_end": null,
"cds_length": 510,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136135.2",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129607.1",
"strand": true,
"transcript": "NM_001136135.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 169,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 616,
"cdna_start": 334,
"cds_end": null,
"cds_length": 510,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000558815.5",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452909.1",
"strand": true,
"transcript": "ENST00000558815.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 163,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 334,
"cds_end": null,
"cds_length": 492,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136134.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129606.1",
"strand": true,
"transcript": "NM_001136134.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 163,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": 332,
"cds_end": null,
"cds_length": 492,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000560583.5",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453029.1",
"strand": true,
"transcript": "ENST00000560583.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 155,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": 334,
"cds_end": null,
"cds_length": 468,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929182.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599241.1",
"strand": true,
"transcript": "ENST00000929182.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 140,
"aa_ref": "R",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 506,
"cdna_start": 344,
"cds_end": null,
"cds_length": 423,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929184.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.301C>T",
"hgvs_p": "p.Arg101Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599243.1",
"strand": true,
"transcript": "ENST00000929184.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": 552,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889918.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559977.1",
"strand": true,
"transcript": "ENST00000889918.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929176.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599235.1",
"strand": true,
"transcript": "ENST00000929176.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": 530,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929177.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599236.1",
"strand": true,
"transcript": "ENST00000929177.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 437,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929178.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599237.1",
"strand": true,
"transcript": "ENST00000929178.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 811,
"cdna_start": 652,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929179.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599238.1",
"strand": true,
"transcript": "ENST00000929179.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": 377,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000929180.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599239.1",
"strand": true,
"transcript": "ENST00000929180.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 508,
"cdna_start": 340,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929183.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599242.1",
"strand": true,
"transcript": "ENST00000929183.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": 376,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000929185.1",
"gene_hgnc_id": 10330,
"gene_symbol": "RPL28",
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599244.1",
"strand": true,
"transcript": "ENST00000929185.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 137,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": 523,
"cds_end": null,
"cds_length": 414,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
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