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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: 10-95683643-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95683643&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95683643,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000265993.13",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1096-14C>A",
"hgvs_p": null,
"transcript": "NM_015631.6",
"protein_id": "NP_056446.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": "ENST00000371217.10",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1096-14C>A",
"hgvs_p": null,
"transcript": "ENST00000371217.10",
"protein_id": "ENSP00000360261.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": "NM_015631.6",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1150-14C>A",
"hgvs_p": null,
"transcript": "ENST00000265993.13",
"protein_id": "ENSP00000265993.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1150-14C>A",
"hgvs_p": null,
"transcript": "ENST00000614499.5",
"protein_id": "ENSP00000483364.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.652-14C>A",
"hgvs_p": null,
"transcript": "ENST00000430368.6",
"protein_id": "ENSP00000387567.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1778,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1096-14C>A",
"hgvs_p": null,
"transcript": "ENST00000371209.5",
"protein_id": "ENSP00000360253.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1464,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1015-14C>A",
"hgvs_p": null,
"transcript": "NM_001410982.1",
"protein_id": "NP_001397911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2422,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1015-14C>A",
"hgvs_p": null,
"transcript": "ENST00000680144.1",
"protein_id": "ENSP00000506398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2414,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1096-14C>A",
"hgvs_p": null,
"transcript": "ENST00000680353.1",
"protein_id": "ENSP00000505367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5872,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.859-14C>A",
"hgvs_p": null,
"transcript": "ENST00000680709.1",
"protein_id": "ENSP00000505830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": -4,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2235,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.652-14C>A",
"hgvs_p": null,
"transcript": "NM_001143973.2",
"protein_id": "NP_001137445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
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"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.1120-14C>A",
"hgvs_p": null,
"transcript": "ENST00000679485.1",
"protein_id": null,
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"aa_start": null,
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"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.*351-14C>A",
"hgvs_p": null,
"transcript": "ENST00000679984.1",
"protein_id": "ENSP00000504998.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.669-14C>A",
"hgvs_p": null,
"transcript": "ENST00000680697.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
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"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.1151-14C>A",
"hgvs_p": null,
"transcript": "ENST00000681739.1",
"protein_id": null,
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"aa_start": null,
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"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.*130+3401C>A",
"hgvs_p": null,
"transcript": "ENST00000681928.1",
"protein_id": "ENSP00000505552.1",
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},
{
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"strand": false,
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],
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"intron_rank": 9,
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"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1096-14C>A",
"hgvs_p": null,
"transcript": "XM_011539627.3",
"protein_id": "XP_011537929.2",
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"cds_start": -4,
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"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1015-14C>A",
"hgvs_p": null,
"transcript": "XM_005269690.3",
"protein_id": "XP_005269747.2",
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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": 9,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
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"hgvs_c": "c.1096-14C>A",
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"transcript": "XM_011539628.3",
"protein_id": "XP_011537930.2",
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},
{
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"strand": false,
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],
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"intron_rank": 9,
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"gene_symbol": "TCTN3",
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"hgvs_c": "c.1096-14C>A",
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"transcript": "XM_047425041.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1015-14C>A",
"hgvs_p": null,
"transcript": "XM_047425042.1",
"protein_id": "XP_047280998.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"dbsnp": "rs41291568",
"frequency_reference_population": 0.00036220462,
"hom_count_reference_population": 0,
"allele_count_reference_population": 579,
"gnomad_exomes_af": 0.000377523,
"gnomad_genomes_af": 0.000216712,
"gnomad_exomes_ac": 546,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.1,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000265993.13",
"gene_symbol": "TCTN3",
"hgnc_id": 24519,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1150-14C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Joubert syndrome 18,Orofacial-digital syndrome IV,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|Orofacial-digital syndrome IV;Joubert syndrome 18",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}