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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: 19-6002836-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6002836&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RFX2",
"hgnc_id": 9983,
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000635.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RANBP3-DT",
"hgnc_id": 55312,
"hgvs_c": "n.113-9284C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000587836.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9996,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"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": "Pathogenic",
"computational_score_selected": 0.8815428018569946,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000635.4",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000303657.10",
"protein_coding": true,
"protein_id": "NP_000626.2",
"strand": false,
"transcript": "NM_000635.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000303657.10",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000635.4",
"protein_coding": true,
"protein_id": "ENSP00000306335.4",
"strand": false,
"transcript": "ENST00000303657.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3595,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000359161.7",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352076.3",
"strand": false,
"transcript": "ENST00000359161.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 730,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000926861.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596920.1",
"strand": false,
"transcript": "ENST00000926861.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969658.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639717.1",
"strand": false,
"transcript": "ENST00000969658.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 704,
"aa_ref": "R",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889048.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1478G>C",
"hgvs_p": "p.Arg493Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559107.1",
"strand": false,
"transcript": "ENST00000889048.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_134433.3",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_602309.1",
"strand": false,
"transcript": "NM_134433.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000592546.5",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467166.1",
"strand": false,
"transcript": "ENST00000592546.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000889050.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559109.1",
"strand": false,
"transcript": "ENST00000889050.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969662.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639721.1",
"strand": false,
"transcript": "ENST00000969662.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000969663.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639722.1",
"strand": false,
"transcript": "ENST00000969663.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 687,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969660.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639719.1",
"strand": false,
"transcript": "ENST00000969660.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3917,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000969659.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1415G>C",
"hgvs_p": "p.Arg472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639718.1",
"strand": false,
"transcript": "ENST00000969659.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 658,
"aa_ref": "R",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889049.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1340G>C",
"hgvs_p": "p.Arg447Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559108.1",
"strand": false,
"transcript": "ENST00000889049.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000969661.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639720.1",
"strand": false,
"transcript": "ENST00000969661.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1148,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926862.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1148G>C",
"hgvs_p": "p.Arg383Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596921.1",
"strand": false,
"transcript": "ENST00000926862.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047439196.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1535G>C",
"hgvs_p": "p.Arg512Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295152.1",
"strand": false,
"transcript": "XM_047439196.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 698,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047439197.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1460G>C",
"hgvs_p": "p.Arg487Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295153.1",
"strand": false,
"transcript": "XM_047439197.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 678,
"aa_ref": "R",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1400,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017027107.2",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1400G>C",
"hgvs_p": "p.Arg467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882596.1",
"strand": false,
"transcript": "XM_017027107.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 653,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3786,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047439198.1",
"gene_hgnc_id": 9983,
"gene_symbol": "RFX2",
"hgvs_c": "c.1325G>C",
"hgvs_p": "p.Arg442Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295154.1",
"strand": false,
"transcript": "XM_047439198.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 178,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 538,
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