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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: 21-38265507-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38265507&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 38265507,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000398938.7",
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-117+8322G>A",
"hgvs_p": null,
"transcript": "NM_170736.3",
"protein_id": "NP_733932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8407,
"mane_select": "ENST00000398938.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-117+8322G>A",
"hgvs_p": null,
"transcript": "ENST00000398938.7",
"protein_id": "ENSP00000381911.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8407,
"mane_select": "NM_170736.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-117+8322G>A",
"hgvs_p": null,
"transcript": "ENST00000328656.8",
"protein_id": "ENSP00000331698.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-256+8322G>A",
"hgvs_p": null,
"transcript": "NM_001276435.2",
"protein_id": "NP_001263364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-259+8322G>A",
"hgvs_p": null,
"transcript": "NM_001276436.2",
"protein_id": "NP_001263365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-117+8322G>A",
"hgvs_p": null,
"transcript": "NM_001276437.2",
"protein_id": "NP_001263366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-116-31419G>A",
"hgvs_p": null,
"transcript": "NM_001276438.2",
"protein_id": "NP_001263367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-117+8322G>A",
"hgvs_p": null,
"transcript": "NM_001276439.2",
"protein_id": "NP_001263368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-117+8322G>A",
"hgvs_p": null,
"transcript": "NM_002243.5",
"protein_id": "NP_002234.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-256+8322G>A",
"hgvs_p": null,
"transcript": "ENST00000612702.4",
"protein_id": "ENSP00000484960.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
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"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-259+8322G>A",
"hgvs_p": null,
"transcript": "ENST00000613499.4",
"protein_id": "ENSP00000479100.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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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,
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-117+8322G>A",
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"transcript": "ENST00000398928.5",
"protein_id": "ENSP00000381902.1",
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"aa_start": null,
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"aa_length": 155,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-220+8322G>A",
"hgvs_p": null,
"transcript": "ENST00000398925.5",
"protein_id": "ENSP00000381899.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-259+8322G>A",
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"transcript": "ENST00000547341.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-116-31419G>A",
"hgvs_p": null,
"transcript": "ENST00000547595.5",
"protein_id": "ENSP00000450254.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-107-31419G>A",
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"transcript": "ENST00000548700.5",
"protein_id": "ENSP00000448886.1",
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},
{
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],
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-259+8322G>A",
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"transcript": "ENST00000549805.5",
"protein_id": "ENSP00000448770.1",
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"feature": null
},
{
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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": 2,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-258-26099G>A",
"hgvs_p": null,
"transcript": "ENST00000549932.5",
"protein_id": "ENSP00000448676.1",
"transcript_support_level": 2,
"aa_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-116-31419G>A",
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"transcript": "ENST00000551422.5",
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},
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],
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"gene_symbol": "KCNJ15",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "KCNJ15",
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"hgvs_c": "c.-259+8322G>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.-359+8322G>A",
"hgvs_p": null,
"transcript": "ENST00000417042.5",
"protein_id": "ENSP00000392951.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 18,
"cds_start": -4,
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"cds_length": 58,
"cdna_start": null,
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"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"dbsnp": "rs928769",
"frequency_reference_population": 0.37962428,
"hom_count_reference_population": 12559,
"allele_count_reference_population": 57753,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.379624,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 57753,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 12559,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"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": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.655,
"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": "ENST00000398938.7",
"gene_symbol": "KCNJ15",
"hgnc_id": 6261,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-117+8322G>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
}