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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: 10-69911806-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69911806&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69911806,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000645393.2",
"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": 41,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.922-5483C>G",
"hgvs_p": null,
"transcript": "NM_001368882.1",
"protein_id": "NP_001355811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": -4,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": "ENST00000645393.2",
"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": 41,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.922-5483C>G",
"hgvs_p": null,
"transcript": "ENST00000645393.2",
"protein_id": "ENSP00000496051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": -4,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": "NM_001368882.1",
"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": 40,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.952-5483C>G",
"hgvs_p": null,
"transcript": "NM_001130103.2",
"protein_id": "NP_001123575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": -4,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3115,
"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": 40,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.952-5483C>G",
"hgvs_p": null,
"transcript": "ENST00000398978.8",
"protein_id": "ENSP00000381949.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": -4,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3115,
"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": 39,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.886-5483C>G",
"hgvs_p": null,
"transcript": "NM_080801.4",
"protein_id": "NP_542991.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3049,
"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": 39,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.886-5483C>G",
"hgvs_p": null,
"transcript": "ENST00000354547.7",
"protein_id": "ENSP00000346553.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"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": 38,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.895-5483C>G",
"hgvs_p": null,
"transcript": "NM_080800.4",
"protein_id": "NP_542990.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
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"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3022,
"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": 38,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.895-5483C>G",
"hgvs_p": null,
"transcript": "ENST00000522165.5",
"protein_id": "ENSP00000428342.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"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": 38,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.886-5483C>G",
"hgvs_p": null,
"transcript": "NM_001368883.1",
"protein_id": "NP_001355812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
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"cdna_length": 3016,
"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,
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"exon_count": 38,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.886-5483C>G",
"hgvs_p": null,
"transcript": "ENST00000357811.8",
"protein_id": "ENSP00000350463.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 17,
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"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.922-5483C>G",
"hgvs_p": null,
"transcript": "NM_001320951.2",
"protein_id": "NP_001307880.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "COL13A1",
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"hgvs_c": "c.886-5483C>G",
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"transcript": "NM_080802.4",
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"cds_start": -4,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.886-5483C>G",
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"transcript": "ENST00000517713.5",
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},
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],
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"gene_symbol": "COL13A1",
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"hgvs_c": "c.922-5483C>G",
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},
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],
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"transcript": "ENST00000673641.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "COL13A1",
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"hgvs_c": "c.835-5483C>G",
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},
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],
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"gene_symbol": "COL13A1",
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"hgvs_c": "c.832-5483C>G",
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"transcript": "NM_001368895.1",
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},
{
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],
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"exon_count": 36,
"intron_rank": 16,
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"gene_symbol": "COL13A1",
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"hgvs_c": "c.886-5483C>G",
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"transcript": "NM_001368885.1",
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],
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],
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"gene_symbol": "COL13A1",
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},
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],
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"intron_rank": 13,
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"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.781-5483C>G",
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"transcript": "NM_001368896.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "COL13A1",
"gene_hgnc_id": 2190,
"hgvs_c": "c.781-5483C>G",
"hgvs_p": null,
"transcript": "ENST00000674121.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "COL13A1",
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"protein_id": "XP_047280575.1",
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}
],
"gene_symbol": "COL13A1",
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"dbsnp": "rs2894280",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656392,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.108,
"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": "ENST00000645393.2",
"gene_symbol": "COL13A1",
"hgnc_id": 2190,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.922-5483C>G",
"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
}