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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: 12-40398498-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=40398498&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 40398498,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000454784.10",
"consequences": [
{
"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": 173,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MUC19",
"gene_hgnc_id": 14362,
"hgvs_c": "c.85+587G>A",
"hgvs_p": null,
"transcript": "ENST00000454784.10",
"protein_id": "ENSP00000508949.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8222,
"cds_start": -4,
"cds_end": null,
"cds_length": 24669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24669,
"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": 172,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MUC19",
"gene_hgnc_id": 14362,
"hgvs_c": "c.85+587G>A",
"hgvs_p": null,
"transcript": "NM_173600.2",
"protein_id": "NP_775871.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 8186,
"cds_start": -4,
"cds_end": null,
"cds_length": 24561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258167",
"gene_hgnc_id": null,
"hgvs_c": "n.262+62C>T",
"hgvs_p": null,
"transcript": "ENST00000552757.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 401,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MUC19",
"gene_hgnc_id": 14362,
"hgvs_c": "n.138+587G>A",
"hgvs_p": null,
"transcript": "ENST00000676020.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258167",
"gene_hgnc_id": null,
"hgvs_c": "n.307+17803C>T",
"hgvs_p": null,
"transcript": "ENST00000724141.1",
"protein_id": null,
"transcript_support_level": null,
"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": 720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258167",
"gene_hgnc_id": null,
"hgvs_c": "n.169+21722C>T",
"hgvs_p": null,
"transcript": "ENST00000724142.1",
"protein_id": null,
"transcript_support_level": null,
"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": 451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258167",
"gene_hgnc_id": null,
"hgvs_c": "n.169+21722C>T",
"hgvs_p": null,
"transcript": "ENST00000724143.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258167",
"gene_hgnc_id": null,
"hgvs_c": "n.295+17803C>T",
"hgvs_p": null,
"transcript": "ENST00000724144.1",
"protein_id": null,
"transcript_support_level": null,
"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": 455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258167",
"gene_hgnc_id": null,
"hgvs_c": "n.317+17803C>T",
"hgvs_p": null,
"transcript": "ENST00000724145.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000258167",
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"hgvs_c": "n.175+21722C>T",
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000258167",
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"hgvs_c": "n.169+21722C>T",
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"transcript": "ENST00000724147.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "ENSG00000258167",
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},
{
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],
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"gene_symbol": "ENSG00000258167",
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},
{
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],
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},
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],
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},
{
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],
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},
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],
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],
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},
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],
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"intron_rank": 4,
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"gene_symbol": "ENSG00000258167",
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"hgvs_c": "n.400+62C>T",
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],
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},
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],
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "LOC105369736",
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"hgvs_c": "n.409+62C>T",
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"transcript": "XR_944867.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "LOC105369736",
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"hgvs_c": "n.409+62C>T",
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"transcript": "XR_944868.3",
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},
{
"aa_ref": null,
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}
],
"gene_symbol": "MUC19",
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"dbsnp": "rs11564258",
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"gnomad_exomes_af": 0.0125,
"gnomad_genomes_af": 0.0328282,
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"gnomad_genomes_ac": 4996,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.722,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000454784.10",
"gene_symbol": "MUC19",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000724141.1",
"gene_symbol": "ENSG00000258167",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.307+17803C>T",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_944866.1",
"gene_symbol": "LOC105369736",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.409+62C>T",
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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
}