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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: 8-19232269-T-TAAGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=19232269&ref=T&alt=TAAGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 19232269,
"ref": "T",
"alt": "TAAGG",
"effect": "intron_variant",
"transcript": "ENST00000517949.5",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.471+3194_471+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000517949.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000517949.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.214+3194_214+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000518417.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000518417.1"
},
{
"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": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.410+3194_410+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000520920.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520920.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.584+3194_584+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807923.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000807923.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.499+3194_499+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807924.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000807924.1"
},
{
"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": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.488+3194_488+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807925.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000807925.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.322-5039_322-5038insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807926.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000807926.1"
},
{
"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": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.496+3194_496+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807927.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000807927.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.482+3194_482+3195insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807928.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000253557",
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"hgvs_c": "n.348-5039_348-5038insCCTT",
"hgvs_p": null,
"transcript": "ENST00000807929.1",
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"biotype": "pseudogene",
"feature": "ENST00000807929.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ENSG00000253557",
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},
{
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],
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},
{
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],
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"gene_symbol": "ENSG00000253557",
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},
{
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],
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},
{
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],
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"gene_symbol": "ENSG00000253557",
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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": 3,
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"gene_symbol": "ENSG00000253557",
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"hgvs_c": "n.356+3194_356+3195insCCTT",
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"transcript": "ENST00000807937.1",
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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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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000253557",
"gene_hgnc_id": null,
"hgvs_c": "n.490+3194_490+3195insCCTT",
"hgvs_p": null,
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},
{
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],
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"exon_count": 3,
"intron_rank": 1,
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{
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{
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],
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"gnomad_genomes_af": 0.486688,
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"gnomad_genomes_ac": 73705,
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"gnomad_genomes_homalt": 18393,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.101,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000517949.5",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
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{
"score": -8,
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"BA1"
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"verdict": "Benign",
"transcript": "NR_038919.1",
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"intron_variant"
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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
}