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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: 1-230954832-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230954832&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 230954832,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000366661.9",
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_024525.5",
"protein_id": "NP_078801.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": -4,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": "ENST00000366661.9",
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "ENST00000366661.9",
"protein_id": "ENSP00000355621.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": -4,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": "NM_024525.5",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "ENST00000366662.8",
"protein_id": "ENSP00000355622.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3112,
"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": 23,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376510.1",
"protein_id": "NP_001363439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3273,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376507.1",
"protein_id": "NP_001363436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3183,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376513.1",
"protein_id": "NP_001363442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": -4,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3180,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376511.1",
"protein_id": "NP_001363440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3117,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001122835.3",
"protein_id": "NP_001116307.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376512.1",
"protein_id": "NP_001363441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3045,
"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": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376508.1",
"protein_id": "NP_001363437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376509.1",
"protein_id": "NP_001363438.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 731,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2889,
"mane_select": null,
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"biotype": null,
"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": 19,
"intron_rank": 3,
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"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "NM_001376514.1",
"protein_id": "NP_001363443.1",
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"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"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": 5,
"intron_rank": 3,
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"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.407-429C>G",
"hgvs_p": null,
"transcript": "ENST00000522821.5",
"protein_id": "ENSP00000430385.1",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 184,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.272-429C>G",
"hgvs_p": null,
"transcript": "ENST00000522399.1",
"protein_id": "ENSP00000428622.1",
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "n.*130-429C>G",
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"transcript": "ENST00000466507.2",
"protein_id": "ENSP00000431120.1",
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},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "n.443-429C>G",
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"transcript": "ENST00000481976.6",
"protein_id": "ENSP00000430280.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "XM_005273264.3",
"protein_id": "XP_005273321.1",
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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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "XM_006711814.3",
"protein_id": "XP_006711877.1",
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 3,
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"gene_symbol": "TTC13",
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"hgvs_c": "c.443-429C>G",
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"transcript": "XM_047430306.1",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "TTC13",
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"hgvs_c": "c.-62-429C>G",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"hgvs_c": "c.443-429C>G",
"hgvs_p": null,
"transcript": "XM_047430332.1",
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"feature": null
}
],
"gene_symbol": "TTC13",
"gene_hgnc_id": 26204,
"dbsnp": "rs6541240",
"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": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.866,
"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": "ENST00000366661.9",
"gene_symbol": "TTC13",
"hgnc_id": 26204,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.443-429C>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
}