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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: 15-57617966-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57617966&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 57617966,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000267853.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "NM_001018100.5",
"protein_id": "NP_001018110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": "ENST00000267853.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000267853.10",
"protein_id": "ENSP00000267853.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": "NM_001018100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000587652.5",
"protein_id": "ENSP00000465231.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000380565.8",
"protein_id": "ENSP00000369939.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000468886.5",
"protein_id": "ENSP00000433702.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000471563.5",
"protein_id": "ENSP00000432563.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000488175.5",
"protein_id": "ENSP00000432066.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000496101.5",
"protein_id": "ENSP00000434588.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "NM_001285900.3",
"protein_id": "NP_001272829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "NM_001018090.6",
"protein_id": "NP_001018100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
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"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000380569.6",
"protein_id": "ENSP00000369943.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "GCOM1",
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"hgvs_c": "c.163-67G>A",
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"transcript": "NM_001018091.6",
"protein_id": "NP_001018101.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000380568.7",
"protein_id": "ENSP00000369942.3",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
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"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.163-67G>A",
"hgvs_p": null,
"transcript": "NM_152451.8",
"protein_id": "NP_689664.3",
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},
{
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],
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"gene_symbol": "MYZAP",
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"hgvs_c": "c.163-67G>A",
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"transcript": "ENST00000649429.1",
"protein_id": "ENSP00000497390.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "MYZAP",
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"hgvs_c": "c.118-67G>A",
"hgvs_p": null,
"transcript": "ENST00000569089.1",
"protein_id": "ENSP00000457126.1",
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},
{
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],
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"gene_symbol": "GCOM1",
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"hgvs_c": "n.163-67G>A",
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"transcript": "ENST00000460962.5",
"protein_id": "ENSP00000435774.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "GCOM1",
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"hgvs_c": "n.163-67G>A",
"hgvs_p": null,
"transcript": "ENST00000463717.5",
"protein_id": "ENSP00000435028.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "GCOM1",
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"hgvs_c": "n.163-67G>A",
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"transcript": "ENST00000477282.5",
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},
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.294-67G>A",
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"transcript": "NR_104367.2",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
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"hgvs_c": "n.294-67G>A",
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"transcript": "NR_104368.2",
"protein_id": null,
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},
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{
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{
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000587652.5",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}