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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: 2-15617990-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15617990&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 15617990,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000233084.8",
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1117-191A>C",
"hgvs_p": null,
"transcript": "NM_004939.3",
"protein_id": "NP_004930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000233084.8",
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1117-191A>C",
"hgvs_p": null,
"transcript": "ENST00000233084.8",
"protein_id": "ENSP00000233084.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_004939.3",
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.841-191A>C",
"hgvs_p": null,
"transcript": "ENST00000617198.5",
"protein_id": "ENSP00000482416.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2384,
"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": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1117-191A>C",
"hgvs_p": null,
"transcript": "ENST00000381341.7",
"protein_id": "ENSP00000370745.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1117-191A>C",
"hgvs_p": null,
"transcript": "ENST00000434671.2",
"protein_id": "ENSP00000413767.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2820,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1099-191A>C",
"hgvs_p": null,
"transcript": "ENST00000676916.1",
"protein_id": "ENSP00000503949.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": -4,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2504,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1117-191A>C",
"hgvs_p": null,
"transcript": "ENST00000678137.1",
"protein_id": "ENSP00000503001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2451,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.988-191A>C",
"hgvs_p": null,
"transcript": "ENST00000676937.1",
"protein_id": "ENSP00000503720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": -4,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2538,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.988-191A>C",
"hgvs_p": null,
"transcript": "ENST00000678594.1",
"protein_id": "ENSP00000502982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": -4,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"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": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.1117-191A>C",
"hgvs_p": null,
"transcript": "ENST00000678786.1",
"protein_id": "ENSP00000502926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
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"cds_length": 2034,
"cdna_start": null,
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"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.805-191A>C",
"hgvs_p": null,
"transcript": "ENST00000621973.2",
"protein_id": "ENSP00000484958.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 636,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
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"gene_symbol": "DDX1",
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"hgvs_c": "c.*660-191A>C",
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"transcript": "ENST00000678391.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 15,
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"gene_symbol": "DDX1",
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"hgvs_c": "n.1183-191A>C",
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"transcript": "ENST00000459706.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DDX1",
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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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"intron_rank": 15,
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"gene_symbol": "DDX1",
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"hgvs_c": "n.1117-191A>C",
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"transcript": "ENST00000676635.1",
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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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"intron_rank": 15,
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"gene_symbol": "DDX1",
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"hgvs_c": "n.1117-191A>C",
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"transcript": "ENST00000677302.1",
"protein_id": "ENSP00000504080.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 15,
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"gene_symbol": "DDX1",
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"hgvs_c": "n.*62-191A>C",
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"transcript": "ENST00000677355.1",
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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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"gene_symbol": "DDX1",
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"hgvs_c": "n.2591-191A>C",
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"transcript": "ENST00000677649.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX1",
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"hgvs_c": "n.1318-191A>C",
"hgvs_p": null,
"transcript": "ENST00000678536.1",
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},
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"intron_variant"
],
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"transcript": "ENST00000678755.1",
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 25,
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"gene_symbol": "DDX1",
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"hgvs_c": "n.1318-191A>C",
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"transcript": "ENST00000679227.1",
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"cds_start": -4,
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"cdna_length": 2705,
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"feature": null
}
],
"gene_symbol": "DDX1",
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"dbsnp": "rs4668944",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.114,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000233084.8",
"gene_symbol": "DDX1",
"hgnc_id": 2734,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1117-191A>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
}