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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: 14-25041878-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=25041878&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 25041878,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000323944.10",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+8000C>G",
"hgvs_p": null,
"transcript": "NM_001394410.1",
"protein_id": "NP_001381339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "ENST00000323944.10",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+8000C>G",
"hgvs_p": null,
"transcript": "ENST00000323944.10",
"protein_id": "ENSP00000324302.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": "NM_001394410.1",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-149+8000C>G",
"hgvs_p": null,
"transcript": "ENST00000396700.5",
"protein_id": "ENSP00000379928.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4021,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+7329C>G",
"hgvs_p": null,
"transcript": "ENST00000419632.6",
"protein_id": "ENSP00000397212.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1970,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+7082C>G",
"hgvs_p": null,
"transcript": "ENST00000546511.5",
"protein_id": "ENSP00000449536.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1223,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-149+8000C>G",
"hgvs_p": null,
"transcript": "NM_001304476.3",
"protein_id": "NP_001291405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+7082C>G",
"hgvs_p": null,
"transcript": "NM_001304477.3",
"protein_id": "NP_001291406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3961,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-120+8000C>G",
"hgvs_p": null,
"transcript": "NM_001351940.3",
"protein_id": "NP_001338869.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4277,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+7329C>G",
"hgvs_p": null,
"transcript": "NM_001351941.3",
"protein_id": "NP_001338870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4283,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-109+8000C>G",
"hgvs_p": null,
"transcript": "NM_001351942.3",
"protein_id": "NP_001338871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4266,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-109+7329C>G",
"hgvs_p": null,
"transcript": "NM_001351943.3",
"protein_id": "NP_001338872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"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": 7,
"intron_rank": 1,
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"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-154+7329C>G",
"hgvs_p": null,
"transcript": "NM_001394412.1",
"protein_id": "NP_001381341.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-117+7329C>G",
"hgvs_p": null,
"transcript": "NM_001394414.1",
"protein_id": "NP_001381343.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-227+8000C>G",
"hgvs_p": null,
"transcript": "NM_001394415.1",
"protein_id": "NP_001381344.1",
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"aa_start": null,
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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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+7329C>G",
"hgvs_p": null,
"transcript": "NM_014178.9",
"protein_id": "NP_054897.4",
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"aa_start": null,
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"aa_length": 210,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4861,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-87+8000C>G",
"hgvs_p": null,
"transcript": "NM_001394418.1",
"protein_id": "NP_001381347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+8000C>G",
"hgvs_p": null,
"transcript": "NM_001394420.1",
"protein_id": "NP_001381349.1",
"transcript_support_level": null,
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"aa_length": 111,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "n.-120+8000C>G",
"hgvs_p": null,
"transcript": "ENST00000548182.1",
"protein_id": "ENSP00000447268.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-200+8000C>G",
"hgvs_p": null,
"transcript": "XM_047431293.1",
"protein_id": "XP_047287249.1",
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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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.-33+3042C>G",
"hgvs_p": null,
"transcript": "XM_017021241.2",
"protein_id": "XP_016876730.1",
"transcript_support_level": null,
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"cdna_start": null,
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"cdna_length": 3941,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"dbsnp": "rs17257773",
"frequency_reference_population": 0.06933894,
"hom_count_reference_population": 455,
"allele_count_reference_population": 10552,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0693389,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10552,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 455,
"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": 0.519,
"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": "ENST00000323944.10",
"gene_symbol": "STXBP6",
"hgnc_id": 19666,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-33+8000C>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
}