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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: 5-147879266-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=147879266&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 147879266,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_054023.5",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "NM_054023.5",
"protein_id": "NP_473364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296694.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_054023.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000296694.5",
"protein_id": "ENSP00000296694.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_054023.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296694.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937175.1",
"protein_id": "ENSP00000607234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937175.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937176.1",
"protein_id": "ENSP00000607235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937176.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937177.1",
"protein_id": "ENSP00000607236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937177.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937178.1",
"protein_id": "ENSP00000607237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937178.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937179.1",
"protein_id": "ENSP00000607238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937179.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937180.1",
"protein_id": "ENSP00000607239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937180.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937181.1",
"protein_id": "ENSP00000607240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937181.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937182.1",
"protein_id": "ENSP00000607241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
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"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937182.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937183.1",
"protein_id": "ENSP00000607242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937183.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "SCGB3A2",
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"hgvs_c": "c.55+408T>A",
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"transcript": "ENST00000937184.1",
"protein_id": "ENSP00000607243.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000937184.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
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"hgvs_c": "c.55+408T>A",
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"transcript": "ENST00000937185.1",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000937185.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "SCGB3A2",
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},
{
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"strand": true,
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],
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"intron_rank": 2,
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"gene_symbol": "SCGB3A2",
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"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937187.1",
"protein_id": "ENSP00000607246.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000937187.1"
},
{
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],
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"exon_count": 4,
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"gene_symbol": "SCGB3A2",
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},
{
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],
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"gene_symbol": "SCGB3A2",
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"hgvs_c": "c.55+408T>A",
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"transcript": "ENST00000937189.1",
"protein_id": "ENSP00000607248.1",
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"biotype": "protein_coding",
"feature": "ENST00000937189.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "c.55+408T>A",
"hgvs_p": null,
"transcript": "ENST00000937190.1",
"protein_id": "ENSP00000607249.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"protein_id": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000507160.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"hgvs_c": "n.305-2180T>A",
"hgvs_p": null,
"transcript": "ENST00000514688.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000514688.1"
}
],
"gene_symbol": "SCGB3A2",
"gene_hgnc_id": 18391,
"dbsnp": "rs17107353",
"frequency_reference_population": 0.14604712,
"hom_count_reference_population": 1848,
"allele_count_reference_population": 22231,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.146047,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 22231,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1848,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"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": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.132,
"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": "NM_054023.5",
"gene_symbol": "SCGB3A2",
"hgnc_id": 18391,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55+408T>A",
"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
}