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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: 15-57621677-CG-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57621677&ref=CG&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GCOM1",
"hgnc_id": 26424,
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001285900.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MYZAP",
"hgnc_id": 43444,
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001018100.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"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": "L",
"aa_end": null,
"aa_length": 466,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1401,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018100.5",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267853.10",
"protein_coding": true,
"protein_id": "NP_001018110.1",
"strand": true,
"transcript": "NM_001018100.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 466,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1401,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000267853.10",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001018100.5",
"protein_coding": true,
"protein_id": "ENSP00000267853.5",
"strand": true,
"transcript": "ENST00000267853.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 409,
"cds_end": null,
"cds_length": 2298,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587652.5",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465231.1",
"strand": true,
"transcript": "ENST00000587652.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1317,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380565.8",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369939.4",
"strand": true,
"transcript": "ENST00000380565.8",
"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": 2601,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000488175.5",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "n.388_389delCGinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432066.1",
"strand": true,
"transcript": "ENST00000488175.5",
"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": 2508,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468886.5",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "n.318+3489_318+3490delCGinsTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433702.1",
"strand": true,
"transcript": "ENST00000468886.5",
"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": 2275,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471563.5",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "n.318+3489_318+3490delCGinsTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432563.1",
"strand": true,
"transcript": "ENST00000471563.5",
"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": 2032,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496101.5",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "n.318+3489_318+3490delCGinsTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434588.1",
"strand": true,
"transcript": "ENST00000496101.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5307,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2298,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001285900.3",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272829.1",
"strand": true,
"transcript": "NM_001285900.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1653,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018090.6",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018100.1",
"strand": true,
"transcript": "NM_001018090.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1653,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380569.6",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369943.2",
"strand": true,
"transcript": "ENST00000380569.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1572,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854763.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524822.1",
"strand": true,
"transcript": "ENST00000854763.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1548,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941207.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.535_536delCGinsTT",
"hgvs_p": "p.Arg179Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611266.1",
"strand": true,
"transcript": "ENST00000941207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1488,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941204.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611263.1",
"strand": true,
"transcript": "ENST00000941204.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1461,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854759.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524818.1",
"strand": true,
"transcript": "ENST00000854759.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1422,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854765.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524824.1",
"strand": true,
"transcript": "ENST00000854765.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 472,
"aa_ref": "R",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1419,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941206.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.406_407delCGinsTT",
"hgvs_p": "p.Arg136Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611265.1",
"strand": true,
"transcript": "ENST00000941206.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 454,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1365,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854758.1",
"gene_hgnc_id": 43444,
"gene_symbol": "MYZAP",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524817.1",
"strand": true,
"transcript": "ENST00000854758.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4457,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1338,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018091.6",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018101.1",
"strand": true,
"transcript": "NM_001018091.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1338,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380568.7",
"gene_hgnc_id": 26424,
"gene_symbol": "GCOM1",
"hgvs_c": "c.388_389delCGinsTT",
"hgvs_p": "p.Arg130Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369942.3",
"strand": true,
"transcript": "ENST00000380568.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1317,
"cds_start": 388,
"consequences": [
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