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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: 18-49483658-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49483658&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "RPL17-C18orf32",
"hgnc_id": 44661,
"hgvs_c": "c.620dupC",
"hgvs_p": "p.Ser208fs",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001199355.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "C18orf32",
"hgnc_id": 31690,
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001035005.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Glycosylphosphatidylinositol biosynthesis defect 25,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5548,
"cdna_start": 305,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001035005.4",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318240.8",
"protein_coding": true,
"protein_id": "NP_001030177.1",
"strand": false,
"transcript": "NM_001035005.4",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5548,
"cdna_start": 305,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000318240.8",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001035005.4",
"protein_coding": true,
"protein_id": "ENSP00000323199.3",
"strand": false,
"transcript": "ENST00000318240.8",
"transcript_support_level": 1
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 228,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 635,
"cds_end": null,
"cds_length": 687,
"cds_start": 620,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000584895.5",
"gene_hgnc_id": 44661,
"gene_symbol": "RPL17-C18orf32",
"hgvs_c": "c.620dupC",
"hgvs_p": "p.Ser208fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463379.1",
"strand": false,
"transcript": "ENST00000584895.5",
"transcript_support_level": 3
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 228,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 633,
"cds_end": null,
"cds_length": 687,
"cds_start": 620,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199355.1",
"gene_hgnc_id": 44661,
"gene_symbol": "RPL17-C18orf32",
"hgvs_c": "c.620dupC",
"hgvs_p": "p.Ser208fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186284.1",
"strand": false,
"transcript": "NM_001199355.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 190,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 600,
"cds_end": null,
"cds_length": 573,
"cds_start": 506,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199356.2",
"gene_hgnc_id": 44661,
"gene_symbol": "RPL17-C18orf32",
"hgvs_c": "c.506dupC",
"hgvs_p": "p.Ser170fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186285.1",
"strand": false,
"transcript": "NM_001199356.2",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 190,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 614,
"cds_end": null,
"cds_length": 573,
"cds_start": 506,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000332968.11",
"gene_hgnc_id": 44661,
"gene_symbol": "RPL17-C18orf32",
"hgvs_c": "c.506dupC",
"hgvs_p": "p.Ser170fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352143.6",
"strand": false,
"transcript": "ENST00000332968.11",
"transcript_support_level": 5
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 141,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001199346.2",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186275.1",
"strand": false,
"transcript": "NM_001199346.2",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 294,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000582392.2",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462538.1",
"strand": false,
"transcript": "ENST00000582392.2",
"transcript_support_level": 3
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 159,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000613385.4",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480941.1",
"strand": false,
"transcript": "ENST00000613385.4",
"transcript_support_level": 2
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 257,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851744.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521803.1",
"strand": false,
"transcript": "ENST00000851744.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 608,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851745.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521804.1",
"strand": false,
"transcript": "ENST00000851745.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 284,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851746.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521805.1",
"strand": false,
"transcript": "ENST00000851746.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": 406,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851747.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521806.1",
"strand": false,
"transcript": "ENST00000851747.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 325,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851748.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521807.1",
"strand": false,
"transcript": "ENST00000851748.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 377,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851749.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521808.1",
"strand": false,
"transcript": "ENST00000851749.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 663,
"cdna_start": 245,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851750.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521809.1",
"strand": false,
"transcript": "ENST00000851750.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 990,
"cdna_start": 164,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918681.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588740.1",
"strand": false,
"transcript": "ENST00000918681.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1094,
"cdna_start": 267,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918682.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588741.1",
"strand": false,
"transcript": "ENST00000918682.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 983,
"cdna_start": 158,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918683.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588742.1",
"strand": false,
"transcript": "ENST00000918683.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 184,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918684.1",
"gene_hgnc_id": 31690,
"gene_symbol": "C18orf32",
"hgvs_c": "c.90dupC",
"hgvs_p": "p.Phe31fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588743.1",
"strand": false,
"transcript": "ENST00000918684.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 76,
"aa_ref": "P",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 203,
"cds_end": null,
"cds_length": 231,
"cds_start": 90,
"consequences": [
"frameshift_variant"
],
"exon_count": 4,
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]
}