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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: 9-122629491-C-CAAAAAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122629491&ref=C&alt=CAAAAAAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122629491,
"ref": "C",
"alt": "CAAAAAAAAA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000623530.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "FFFL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR1B1",
"gene_hgnc_id": 8181,
"hgvs_c": "c.41_42insTTTTTTTTT",
"hgvs_p": "p.Phe13_Leu14insPhePhePhe",
"transcript": "ENST00000623530.2",
"protein_id": "ENSP00000485577.2",
"transcript_support_level": 6,
"aa_start": 14,
"aa_end": null,
"aa_length": 317,
"cds_start": 41,
"cds_end": null,
"cds_length": 954,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "FFFL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR1B1",
"gene_hgnc_id": 8181,
"hgvs_c": "c.41_42insTTTTTTTTT",
"hgvs_p": "p.Phe13_Leu14insPhePhePhe",
"transcript": "NM_001004450.3",
"protein_id": "NP_001004450.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 317,
"cds_start": 41,
"cds_end": null,
"cds_length": 954,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "FFFL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR1B1",
"gene_hgnc_id": 8181,
"hgvs_c": "c.41_42insTTTTTTTTT",
"hgvs_p": "p.Phe13_Leu14insPhePhePhe",
"transcript": "NM_001409693.1",
"protein_id": "NP_001396622.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 317,
"cds_start": 41,
"cds_end": null,
"cds_length": 954,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "FFFL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR1B1",
"gene_hgnc_id": 8181,
"hgvs_c": "c.41_42insTTTTTTTTT",
"hgvs_p": "p.Phe13_Leu14insPhePhePhe",
"transcript": "ENST00000707075.1",
"protein_id": "ENSP00000516726.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 317,
"cds_start": 41,
"cds_end": null,
"cds_length": 954,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1929,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234156",
"gene_hgnc_id": null,
"hgvs_c": "n.279-7608_279-7607insAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000419604.1",
"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": 497,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234156",
"gene_hgnc_id": null,
"hgvs_c": "n.4768-7605_4768-7604insAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000431442.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 4987,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234156",
"gene_hgnc_id": null,
"hgvs_c": "n.802-7605_802-7604insAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000723590.1",
"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": 1023,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234156",
"gene_hgnc_id": null,
"hgvs_c": "n.1010-7605_1010-7604insAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000723591.1",
"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": 1231,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234156",
"gene_hgnc_id": null,
"hgvs_c": "n.449-7605_449-7604insAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000723592.1",
"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": 670,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "ENSG00000234156",
"gene_hgnc_id": null,
"hgvs_c": "n.467-7608_467-7607insAAAAAAAAA",
"hgvs_p": null,
"transcript": "ENST00000723593.1",
"protein_id": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 685,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "ENSG00000234156",
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"hgvs_c": "n.439-7605_439-7604insAAAAAAAAA",
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"transcript": "ENST00000723594.1",
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},
{
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"strand": true,
"consequences": [
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],
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ENSG00000234156",
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},
{
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"strand": true,
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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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"hgvs_c": "n.342-7605_342-7604insAAAAAAAAA",
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},
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],
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"intron_rank": 3,
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"hgvs_c": "n.480-7605_480-7604insAAAAAAAAA",
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],
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],
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},
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"strand": true,
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],
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"gene_symbol": "ENSG00000234156",
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"hgvs_c": "n.81-7605_81-7604insAAAAAAAAA",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "LOC124902265",
"gene_hgnc_id": null,
"hgvs_c": "n.345-7605_345-7604insAAAAAAAAA",
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"cdna_start": null,
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"mane_plus": null,
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"feature": null
}
],
"gene_symbol": "OR1B1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.749,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623530.2",
"gene_symbol": "OR1B1",
"hgnc_id": 8181,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.41_42insTTTTTTTTT",
"hgvs_p": "p.Phe13_Leu14insPhePhePhe"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000431442.3",
"gene_symbol": "ENSG00000234156",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4768-7605_4768-7604insAAAAAAAAA",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061759.1",
"gene_symbol": "LOC124902265",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.345-7605_345-7604insAAAAAAAAA",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}