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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: 14-87982181-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=87982181&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 87982181,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000261304.7",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.621+24T>C",
"hgvs_p": null,
"transcript": "NM_000153.4",
"protein_id": "NP_000144.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": "ENST00000261304.7",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.621+24T>C",
"hgvs_p": null,
"transcript": "ENST00000261304.7",
"protein_id": "ENSP00000261304.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": "NM_000153.4",
"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": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.609+24T>C",
"hgvs_p": null,
"transcript": "ENST00000622264.4",
"protein_id": "ENSP00000480649.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.611+24T>C",
"hgvs_p": null,
"transcript": "ENST00000474294.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1263,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.552+24T>C",
"hgvs_p": null,
"transcript": "NM_001201401.2",
"protein_id": "NP_001188330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.552+24T>C",
"hgvs_p": null,
"transcript": "ENST00000393568.8",
"protein_id": "ENSP00000377198.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.543+24T>C",
"hgvs_p": null,
"transcript": "NM_001201402.2",
"protein_id": "NP_001188331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3864,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.543+24T>C",
"hgvs_p": null,
"transcript": "ENST00000393569.6",
"protein_id": "ENSP00000377199.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2547,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453+24T>C",
"hgvs_p": null,
"transcript": "NM_001424071.1",
"protein_id": "NP_001411000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4132,
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453+24T>C",
"hgvs_p": null,
"transcript": "NM_001424072.1",
"protein_id": "NP_001411001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453+24T>C",
"hgvs_p": null,
"transcript": "NM_001424073.1",
"protein_id": "NP_001411002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": -4,
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"cds_length": 1770,
"cdna_start": null,
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"cdna_length": 3253,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.453+24T>C",
"hgvs_p": null,
"transcript": "ENST00000544807.6",
"protein_id": "ENSP00000437513.2",
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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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.273+24T>C",
"hgvs_p": null,
"transcript": "NM_001424074.1",
"protein_id": "NP_001411003.1",
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"aa_start": null,
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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": 18,
"intron_rank": 7,
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"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.273+24T>C",
"hgvs_p": null,
"transcript": "NM_001424075.1",
"protein_id": "NP_001411004.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "GALC",
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"hgvs_c": "c.-47+24T>C",
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"transcript": "NM_001424076.1",
"protein_id": "NP_001411005.1",
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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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.-47+24T>C",
"hgvs_p": null,
"transcript": "NM_001424077.1",
"protein_id": "NP_001411006.1",
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},
{
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],
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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": 5,
"intron_rank": 4,
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"gene_symbol": "GALC",
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"hgvs_c": "n.322+24T>C",
"hgvs_p": null,
"transcript": "ENST00000556261.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 6,
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"gene_symbol": "GALC",
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"hgvs_c": "n.621+24T>C",
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"transcript": "ENST00000557316.5",
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},
{
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"strand": false,
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],
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 4,
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"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "c.273+24T>C",
"hgvs_p": null,
"transcript": "XM_047431199.1",
"protein_id": "XP_047287155.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"hgvs_c": "n.*394T>C",
"hgvs_p": null,
"transcript": "ENST00000554372.5",
"protein_id": "ENSP00000451884.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 717,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "GALC",
"gene_hgnc_id": 4115,
"dbsnp": "rs45568734",
"frequency_reference_population": 0.13363677,
"hom_count_reference_population": 13404,
"allele_count_reference_population": 181305,
"gnomad_exomes_af": 0.136245,
"gnomad_genomes_af": 0.112993,
"gnomad_exomes_ac": 164109,
"gnomad_genomes_ac": 17196,
"gnomad_exomes_homalt": 12260,
"gnomad_genomes_homalt": 1144,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.318,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000261304.7",
"gene_symbol": "GALC",
"hgnc_id": 4115,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.621+24T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Galactosylceramide beta-galactosidase deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|Galactosylceramide beta-galactosidase deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}