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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: 10-48092954-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=48092954&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 48092954,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000687180.1",
"consequences": [
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PTPN20CP",
"gene_hgnc_id": 23424,
"hgvs_c": "n.464-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000614090.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 920,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.299-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000687180.1",
"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": 3857,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289143",
"gene_hgnc_id": null,
"hgvs_c": "n.264-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000687926.1",
"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": 3984,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.368-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000833076.1",
"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": 2063,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.166+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833077.1",
"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": 2077,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.276+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833078.1",
"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": 1185,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.277-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000833079.1",
"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": 1870,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.310-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000833080.1",
"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": 1042,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.301+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833081.1",
"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": 882,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.231+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833082.1",
"protein_id": null,
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"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": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.285+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833083.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.285+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833084.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "ENSG00000289444",
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"hgvs_c": "n.187+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833085.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "ENSG00000289444",
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"transcript": "ENST00000833086.1",
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},
{
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],
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"gene_symbol": "ENSG00000289444",
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"transcript": "ENST00000833087.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.277-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000833088.1",
"protein_id": null,
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},
{
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],
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},
{
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],
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"gene_symbol": "ENSG00000289444",
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"hgvs_c": "n.363+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833090.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.285+12203A>C",
"hgvs_p": null,
"transcript": "ENST00000833091.1",
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},
{
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],
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"gene_symbol": "ENSG00000289444",
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},
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],
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},
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],
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"transcript": "ENST00000833094.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289444",
"gene_hgnc_id": null,
"hgvs_c": "n.187-6089A>C",
"hgvs_p": null,
"transcript": "ENST00000833095.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "ENSG00000289444",
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{
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},
{
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}
],
"gene_symbol": "ENSG00000289444",
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"allele_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
"splice_source_selected": null,
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"bayesdelnoaf_score": -0.97,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
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"acmg_score": -4,
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000687180.1",
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"effects": [
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"inheritance_mode": "",
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},
{
"score": -4,
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"verdict": "Likely_benign",
"transcript": "ENST00000687926.1",
"gene_symbol": "ENSG00000289143",
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"inheritance_mode": "",
"hgvs_c": "n.264-6089A>C",
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},
{
"score": -4,
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"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "ENST00000614090.1",
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"intron_variant"
],
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"hgvs_c": "n.464-6089A>C",
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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
}