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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: 11-108542624-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108542624&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108542624,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000265843.9",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.120-812C>T",
"hgvs_p": null,
"transcript": "NM_015065.3",
"protein_id": "NP_055880.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1989,
"cds_start": -4,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10304,
"mane_select": "ENST00000265843.9",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.120-812C>T",
"hgvs_p": null,
"transcript": "ENST00000265843.9",
"protein_id": "ENSP00000265843.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1989,
"cds_start": -4,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10304,
"mane_select": "NM_015065.3",
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.99-812C>T",
"hgvs_p": null,
"transcript": "ENST00000525344.5",
"protein_id": "ENSP00000432546.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1982,
"cds_start": -4,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6542,
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.-109-812C>T",
"hgvs_p": null,
"transcript": "ENST00000526312.5",
"protein_id": "ENSP00000432683.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1732,
"cds_start": -4,
"cds_end": null,
"cds_length": 5200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5495,
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.120-812C>T",
"hgvs_p": null,
"transcript": "NM_001441059.1",
"protein_id": "NP_001427988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1988,
"cds_start": -4,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10301,
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.99-812C>T",
"hgvs_p": null,
"transcript": "NM_001308019.2",
"protein_id": "NP_001294948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1982,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 10086,
"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,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.99-812C>T",
"hgvs_p": null,
"transcript": "NM_001441060.1",
"protein_id": "NP_001427989.1",
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"aa_start": null,
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"aa_length": 1981,
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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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.-109-812C>T",
"hgvs_p": null,
"transcript": "NM_001144763.2",
"protein_id": "NP_001138235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1913,
"cds_start": -4,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10163,
"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": "EXPH5",
"gene_hgnc_id": 30578,
"hgvs_c": "c.-109-812C>T",
"hgvs_p": null,
"transcript": "NM_001441061.1",
"protein_id": "NP_001427990.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1913,
"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "EXPH5",
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"hgvs_c": "c.-109-812C>T",
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"transcript": "NM_001441067.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "EXPH5",
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"hgvs_c": "c.-109-812C>T",
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"transcript": "NM_001441068.1",
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],
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},
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],
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],
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],
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],
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},
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],
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"gene_symbol": "EXPH5",
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}
],
"gene_symbol": "EXPH5",
"gene_hgnc_id": 30578,
"dbsnp": "rs12269879",
"frequency_reference_population": 0.027277386,
"hom_count_reference_population": 176,
"allele_count_reference_population": 4152,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0272774,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4152,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 176,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.569,
"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": "ENST00000265843.9",
"gene_symbol": "EXPH5",
"hgnc_id": 30578,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.120-812C>T",
"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
}