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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: 20-32703418-CA-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32703418&ref=CA&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "COMMD7",
"hgnc_id": 16223,
"hgvs_c": "c.566_567delTGinsCT",
"hgvs_p": "p.Met189Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_053041.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285382",
"hgnc_id": null,
"hgvs_c": "c.526+604_526+605delTGinsCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000646357.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"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": "T",
"aa_end": null,
"aa_length": 200,
"aa_ref": "M",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 643,
"cds_end": null,
"cds_length": 603,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_053041.3",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.566_567delTGinsCT",
"hgvs_p": "p.Met189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278980.11",
"protein_coding": true,
"protein_id": "NP_444269.2",
"strand": false,
"transcript": "NM_053041.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 200,
"aa_ref": "M",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1362,
"cdna_start": 643,
"cds_end": null,
"cds_length": 603,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000278980.11",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.566_567delTGinsCT",
"hgvs_p": "p.Met189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_053041.3",
"protein_coding": true,
"protein_id": "ENSP00000278980.6",
"strand": false,
"transcript": "ENST00000278980.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 272,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": null,
"cds_end": null,
"cds_length": 819,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646357.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285382",
"hgvs_c": "c.526+604_526+605delTGinsCT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493768.1",
"strand": false,
"transcript": "ENST00000646357.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 226,
"aa_ref": "M",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 721,
"cds_end": null,
"cds_length": 681,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855720.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.644_645delTGinsCT",
"hgvs_p": "p.Met215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525779.1",
"strand": false,
"transcript": "ENST00000855720.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 225,
"aa_ref": "M",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 735,
"cds_end": null,
"cds_length": 678,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855718.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.641_642delTGinsCT",
"hgvs_p": "p.Met214Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525777.1",
"strand": false,
"transcript": "ENST00000855718.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 224,
"aa_ref": "M",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 745,
"cds_end": null,
"cds_length": 675,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941360.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.638_639delTGinsCT",
"hgvs_p": "p.Met213Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611419.1",
"strand": false,
"transcript": "ENST00000941360.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 209,
"aa_ref": "M",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1492,
"cdna_start": 780,
"cds_end": null,
"cds_length": 630,
"cds_start": 593,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855717.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.593_594delTGinsCT",
"hgvs_p": "p.Met198Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525776.1",
"strand": false,
"transcript": "ENST00000855717.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "M",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 640,
"cds_end": null,
"cds_length": 600,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001099339.2",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.563_564delTGinsCT",
"hgvs_p": "p.Met188Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092809.1",
"strand": false,
"transcript": "NM_001099339.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "M",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 628,
"cds_end": null,
"cds_length": 600,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446419.6",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.563_564delTGinsCT",
"hgvs_p": "p.Met188Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395339.1",
"strand": false,
"transcript": "ENST00000446419.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "M",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1365,
"cdna_start": 646,
"cds_end": null,
"cds_length": 600,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941361.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.563_564delTGinsCT",
"hgvs_p": "p.Met188Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611420.1",
"strand": false,
"transcript": "ENST00000941361.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 197,
"aa_ref": "M",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 594,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934209.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.557_558delTGinsCT",
"hgvs_p": "p.Met186Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604268.1",
"strand": false,
"transcript": "ENST00000934209.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 182,
"aa_ref": "M",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 731,
"cds_end": null,
"cds_length": 549,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855715.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.512_513delTGinsCT",
"hgvs_p": "p.Met171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525774.1",
"strand": false,
"transcript": "ENST00000855715.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 178,
"aa_ref": "M",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1267,
"cdna_start": 556,
"cds_end": null,
"cds_length": 537,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855721.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.500_501delTGinsCT",
"hgvs_p": "p.Met167Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525780.1",
"strand": false,
"transcript": "ENST00000855721.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "M",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 593,
"cds_end": null,
"cds_length": 462,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855716.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.425_426delTGinsCT",
"hgvs_p": "p.Met142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525775.1",
"strand": false,
"transcript": "ENST00000855716.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 152,
"aa_ref": "M",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 682,
"cds_end": null,
"cds_length": 459,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855714.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.422_423delTGinsCT",
"hgvs_p": "p.Met141Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525773.1",
"strand": false,
"transcript": "ENST00000855714.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 135,
"aa_ref": "M",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 467,
"cds_end": null,
"cds_length": 408,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855719.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.371_372delTGinsCT",
"hgvs_p": "p.Met124Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525778.1",
"strand": false,
"transcript": "ENST00000855719.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 153,
"aa_ref": "M",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 502,
"cds_end": null,
"cds_length": 462,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027686.3",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.425_426delTGinsCT",
"hgvs_p": "p.Met142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883175.1",
"strand": false,
"transcript": "XM_017027686.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 152,
"aa_ref": "M",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1218,
"cdna_start": 499,
"cds_end": null,
"cds_length": 459,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439932.1",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.422_423delTGinsCT",
"hgvs_p": "p.Met141Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295888.1",
"strand": false,
"transcript": "XM_047439932.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 190,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": null,
"cds_end": null,
"cds_length": 573,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011528604.4",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.*457_*458delTGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526906.1",
"strand": false,
"transcript": "XM_011528604.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017027685.3",
"gene_hgnc_id": 16223,
"gene_symbol": "COMMD7",
"hgvs_c": "c.*457_*458delTGinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883174.1",
"strand": false,
"transcript": "XM_017027685.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 211,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": null,
"cds_end": null,
"cds_length": 636,
"cds_start": null,
"consequences": [
"intron_variant"
],
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