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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: 1-43998533-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43998533&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43998533,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000372310.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1537-508T>C",
"hgvs_p": null,
"transcript": "NM_001024845.3",
"protein_id": "NP_001020016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000372310.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1537-508T>C",
"hgvs_p": null,
"transcript": "ENST00000372310.8",
"protein_id": "ENSP00000361384.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_001024845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1756-508T>C",
"hgvs_p": null,
"transcript": "ENST00000360584.6",
"protein_id": "ENSP00000353791.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1594-508T>C",
"hgvs_p": null,
"transcript": "ENST00000357730.6",
"protein_id": "ENSP00000350362.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1756-508T>C",
"hgvs_p": null,
"transcript": "NM_201649.4",
"protein_id": "NP_964012.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1594-508T>C",
"hgvs_p": null,
"transcript": "NM_006934.4",
"protein_id": "NP_008865.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 652,
"cds_start": -4,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1549-508T>C",
"hgvs_p": null,
"transcript": "NM_001261380.2",
"protein_id": "NP_001248309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
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"cds_length": 1914,
"cdna_start": null,
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"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1537-508T>C",
"hgvs_p": null,
"transcript": "NM_001328629.1",
"protein_id": "NP_001315558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1537-508T>C",
"hgvs_p": null,
"transcript": "ENST00000673836.1",
"protein_id": "ENSP00000501314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
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"cds_length": 1902,
"cdna_start": null,
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"cdna_length": 3119,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1474-508T>C",
"hgvs_p": null,
"transcript": "NM_001328627.1",
"protein_id": "NP_001315556.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 612,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "SLC6A9",
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"hgvs_c": "c.1624+2234T>C",
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"transcript": "ENST00000372306.7",
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},
{
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],
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},
{
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],
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"gene_symbol": "SLC6A9",
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"transcript": "NM_001328628.1",
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},
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],
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"gene_symbol": "SLC6A9",
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],
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},
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],
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"gene_symbol": "SLC6A9",
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},
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],
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"intron_rank": 13,
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"gene_symbol": "SLC6A9",
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"hgvs_c": "c.1699-508T>C",
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},
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],
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"gene_symbol": "SLC6A9",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SLC6A9",
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"hgvs_c": "c.1537-308T>C",
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"transcript": "XM_047428744.1",
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"biotype": null,
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}
],
"gene_symbol": "SLC6A9",
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"dbsnp": "rs3791124",
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"hom_count_reference_population": 56712,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.860687,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 131000,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 56712,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"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": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.488,
"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": -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": "ENST00000372310.8",
"gene_symbol": "SLC6A9",
"hgnc_id": 11056,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1537-508T>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
}