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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: 5-112841706-CTG-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112841706&ref=CTG&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APC",
"hgnc_id": 583,
"hgvs_c": "c.6196_6198delCTGinsGTC",
"hgvs_p": "p.Leu2066Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001407446.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258864",
"hgnc_id": null,
"hgvs_c": "n.228+12734_228+12736delCTGinsGTC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000520401.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 6171,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000038.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257430.9",
"protein_coding": true,
"protein_id": "NP_000029.2",
"strand": true,
"transcript": "NM_000038.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 6171,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257430.9",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000038.6",
"protein_coding": true,
"protein_id": "ENSP00000257430.4",
"strand": true,
"transcript": "ENST00000257430.9",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10619,
"cdna_start": 6269,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508376.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427089.2",
"strand": true,
"transcript": "ENST00000508376.6",
"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": 7406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000508624.5",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5434_*5436delCTGinsGTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424265.1",
"strand": true,
"transcript": "ENST00000508624.5",
"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": 7406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000508624.5",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "n.*5434_*5436delCTGinsGTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424265.1",
"strand": true,
"transcript": "ENST00000508624.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520401.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258864",
"hgvs_c": "n.228+12734_228+12736delCTGinsGTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454861.1",
"strand": true,
"transcript": "ENST00000520401.1",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2871,
"aa_ref": "L",
"aa_start": 2066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10949,
"cdna_start": 6416,
"cds_end": null,
"cds_length": 8616,
"cds_start": 6196,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407446.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6196_6198delCTGinsGTC",
"hgvs_p": "p.Leu2066Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394375.1",
"strand": true,
"transcript": "NM_001407446.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 2056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10758,
"cdna_start": 6225,
"cds_end": null,
"cds_length": 8586,
"cds_start": 6166,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354896.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6166_6168delCTGinsGTC",
"hgvs_p": "p.Leu2056Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341825.1",
"strand": true,
"transcript": "NM_001354896.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 2056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11102,
"cdna_start": 6569,
"cds_end": null,
"cds_length": 8586,
"cds_start": 6166,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407447.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6166_6168delCTGinsGTC",
"hgvs_p": "p.Leu2056Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394376.1",
"strand": true,
"transcript": "NM_001407447.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 2056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10869,
"cdna_start": 6336,
"cds_end": null,
"cds_length": 8586,
"cds_start": 6166,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407448.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6166_6168delCTGinsGTC",
"hgvs_p": "p.Leu2056Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394377.1",
"strand": true,
"transcript": "NM_001407448.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 2056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10866,
"cdna_start": 6333,
"cds_end": null,
"cds_length": 8586,
"cds_start": 6166,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407449.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6166_6168delCTGinsGTC",
"hgvs_p": "p.Leu2056Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394378.1",
"strand": true,
"transcript": "NM_001407449.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 2056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9496,
"cdna_start": 6222,
"cds_end": null,
"cds_length": 8586,
"cds_start": 6166,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504915.3",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6166_6168delCTGinsGTC",
"hgvs_p": "p.Leu2056Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473355.2",
"strand": true,
"transcript": "ENST00000504915.3",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2861,
"aa_ref": "L",
"aa_start": 2056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9766,
"cdna_start": 6336,
"cds_end": null,
"cds_length": 8586,
"cds_start": 6166,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951167.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6166_6168delCTGinsGTC",
"hgvs_p": "p.Leu2056Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621226.1",
"strand": true,
"transcript": "ENST00000951167.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2853,
"aa_ref": "L",
"aa_start": 2048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10895,
"cdna_start": 6362,
"cds_end": null,
"cds_length": 8562,
"cds_start": 6142,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354897.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6142_6144delCTGinsGTC",
"hgvs_p": "p.Leu2048Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341826.1",
"strand": true,
"transcript": "NM_001354897.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10812,
"cdna_start": 6279,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127510.3",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120982.1",
"strand": true,
"transcript": "NM_001127510.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11048,
"cdna_start": 6515,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354895.2",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341824.1",
"strand": true,
"transcript": "NM_001354895.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10815,
"cdna_start": 6282,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407450.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394379.1",
"strand": true,
"transcript": "NM_001407450.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10616,
"cdna_start": 6262,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509732.6",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426541.2",
"strand": true,
"transcript": "ENST00000509732.6",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2843,
"aa_ref": "L",
"aa_start": 2038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 6463,
"cds_end": null,
"cds_length": 8532,
"cds_start": 6112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000512211.7",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6112_6114delCTGinsGTC",
"hgvs_p": "p.Leu2038Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423828.3",
"strand": true,
"transcript": "ENST00000512211.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2836,
"aa_ref": "L",
"aa_start": 2031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10713,
"cdna_start": 6180,
"cds_end": null,
"cds_length": 8511,
"cds_start": 6091,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407451.1",
"gene_hgnc_id": 583,
"gene_symbol": "APC",
"hgvs_c": "c.6091_6093delCTGinsGTC",
"hgvs_p": "p.Leu2031Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394380.1",
"strand": true,
"transcript": "NM_001407451.1",
"transcript_support_level": null
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