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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: 2-207088682-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=207088682&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 207088682,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000309446.11",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.734-101A>C",
"hgvs_p": null,
"transcript": "NM_003709.4",
"protein_id": "NP_003700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8365,
"mane_select": "ENST00000309446.11",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.734-101A>C",
"hgvs_p": null,
"transcript": "ENST00000309446.11",
"protein_id": "ENSP00000309570.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8365,
"mane_select": "NM_003709.4",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.635-101A>C",
"hgvs_p": null,
"transcript": "ENST00000421199.5",
"protein_id": "ENSP00000387510.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3037,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.532-101A>C",
"hgvs_p": null,
"transcript": "ENST00000423015.5",
"protein_id": "ENSP00000398572.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1788,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.164-101A>C",
"hgvs_p": null,
"transcript": "ENST00000458272.2",
"protein_id": "ENSP00000393268.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2654,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.650-101A>C",
"hgvs_p": null,
"transcript": "NM_001270944.2",
"protein_id": "NP_001257873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
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"cdna_length": 7954,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.650-101A>C",
"hgvs_p": null,
"transcript": "ENST00000435602.2",
"protein_id": "ENSP00000413590.2",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 274,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2978,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.635-101A>C",
"hgvs_p": null,
"transcript": "NM_001270943.2",
"protein_id": "NP_001257872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7990,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"hgvs_c": "c.734-7418A>C",
"hgvs_p": null,
"transcript": "ENST00000703689.1",
"protein_id": "ENSP00000515426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
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"cds_length": 771,
"cdna_start": null,
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"cdna_length": 3121,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "KLF7",
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"hgvs_c": "c.532-101A>C",
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"transcript": "NM_001270942.1",
"protein_id": "NP_001257871.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "KLF7",
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"hgvs_c": "c.532-101A>C",
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"transcript": "NM_001438026.1",
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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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],
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],
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],
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},
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],
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"gene_symbol": "KLF7",
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"hgvs_c": "c.635-101A>C",
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}
],
"gene_symbol": "KLF7",
"gene_hgnc_id": 6350,
"dbsnp": "rs2302870",
"frequency_reference_population": 0.09202901,
"hom_count_reference_population": 5790,
"allele_count_reference_population": 119235,
"gnomad_exomes_af": 0.0941696,
"gnomad_genomes_af": 0.0759509,
"gnomad_exomes_ac": 107673,
"gnomad_genomes_ac": 11562,
"gnomad_exomes_homalt": 5213,
"gnomad_genomes_homalt": 577,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.151,
"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": "ENST00000309446.11",
"gene_symbol": "KLF7",
"hgnc_id": 6350,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.734-101A>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
}