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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: 20-34523041-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34523041&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34523041,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000357156.7",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "NM_014183.4",
"protein_id": "NP_054902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": "ENST00000357156.7",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000357156.7",
"protein_id": "ENSP00000349679.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": "NM_014183.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289720",
"gene_hgnc_id": null,
"hgvs_c": "n.*115-3231T>C",
"hgvs_p": null,
"transcript": "ENST00000696979.1",
"protein_id": "ENSP00000513014.1",
"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": 3463,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.160-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000374846.3",
"protein_id": "ENSP00000363979.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": -4,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1044,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "NM_001319157.2",
"protein_id": "NP_001306086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": -4,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "NM_001382365.1",
"protein_id": "NP_001369294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": -4,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 730,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "NM_001382366.1",
"protein_id": "NP_001369295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 656,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "NM_001382367.1",
"protein_id": "NP_001369296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 721,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.-96-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000696986.1",
"protein_id": "ENSP00000513021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 766,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "c.4-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000300469.13",
"protein_id": "ENSP00000300469.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": -4,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
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"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
"gene_hgnc_id": 15468,
"hgvs_c": "n.4-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000480759.1",
"protein_id": "ENSP00000513022.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 26,
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"gene_symbol": "ENSG00000289720",
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"hgvs_c": "n.*1088-3227T>C",
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"transcript": "ENST00000664852.1",
"protein_id": "ENSP00000499754.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 27,
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"gene_symbol": "ENSG00000289720",
"gene_hgnc_id": null,
"hgvs_c": "n.*1239-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000696978.1",
"protein_id": "ENSP00000513013.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 28,
"intron_rank": 25,
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"gene_symbol": "ENSG00000289720",
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"transcript": "ENST00000696980.1",
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},
{
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],
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"gene_symbol": "ENSG00000289720",
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"hgvs_c": "n.*1088-3227T>C",
"hgvs_p": null,
"transcript": "ENST00000696981.1",
"protein_id": "ENSP00000513016.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "DYNLRB1",
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"hgvs_c": "n.41-3227T>C",
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"protein_id": null,
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},
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],
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"gene_symbol": "DYNLRB1",
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"hgvs_c": "n.120-3227T>C",
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},
{
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],
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"gene_symbol": "DYNLRB1",
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"hgvs_c": "n.41-3231T>C",
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"transcript": "NR_168132.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "DYNLRB1",
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"hgvs_c": "n.40+6580T>C",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DYNLRB1",
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"hgvs_c": "n.41-3227T>C",
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},
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"protein_coding": false,
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"intron_variant"
],
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"gene_symbol": "DYNLRB1",
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"transcript": "NR_168139.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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}
],
"gene_symbol": "DYNLRB1",
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"dbsnp": "rs1122174",
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"hom_count_reference_population": 54040,
"allele_count_reference_population": 127961,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.840809,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 127961,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 54040,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.146,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"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": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357156.7",
"gene_symbol": "DYNLRB1",
"hgnc_id": 15468,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4-3227T>C",
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},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000696979.1",
"gene_symbol": "ENSG00000289720",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*115-3231T>C",
"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
}