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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: 1-81717370-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=81717370&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 81717370,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000370725.5",
"consequences": [
{
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "ENST00000370725.5",
"protein_id": "ENSP00000359760.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1474,
"cds_start": -4,
"cds_end": null,
"cds_length": 4425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "ENST00000370723.5",
"protein_id": "ENSP00000359758.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": -4,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "ENST00000370728.5",
"protein_id": "ENSP00000359763.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1459,
"cds_start": -4,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6302,
"mane_select": null,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "ENST00000370727.5",
"protein_id": "ENSP00000359762.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1431,
"cds_start": -4,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "ENST00000370730.5",
"protein_id": "ENSP00000359765.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": -4,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6173,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-143+17562C>T",
"hgvs_p": null,
"transcript": "ENST00000359929.7",
"protein_id": "ENSP00000353006.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1403,
"cds_start": -4,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "ENST00000370721.5",
"protein_id": "ENSP00000359756.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1384,
"cds_start": -4,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "n.586+17562C>T",
"hgvs_p": null,
"transcript": "ENST00000473719.5",
"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": 827,
"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": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-143+17562C>T",
"hgvs_p": null,
"transcript": "NM_001366003.2",
"protein_id": "NP_001352932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": -4,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-143+17562C>T",
"hgvs_p": null,
"transcript": "NM_001366004.2",
"protein_id": "NP_001352933.1",
"transcript_support_level": 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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"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-142-44441C>T",
"hgvs_p": null,
"transcript": "NM_001393349.1",
"protein_id": "NP_001380278.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "ADGRL2",
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"transcript": "NM_001297704.3",
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},
{
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],
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"gene_symbol": "ADGRL2",
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"transcript": "NM_001366008.2",
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},
{
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"strand": true,
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],
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"gene_symbol": "ADGRL2",
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"hgvs_c": "n.567-44441C>T",
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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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"intron_rank": 7,
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"gene_symbol": "ADGRL2",
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"hgvs_c": "c.-143+17562C>T",
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"transcript": "XM_047416118.1",
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],
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},
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],
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"gene_symbol": "ADGRL2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"hgvs_c": "c.-143+17562C>T",
"hgvs_p": null,
"transcript": "XM_047416159.1",
"protein_id": "XP_047272115.1",
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"feature": null
}
],
"gene_symbol": "ADGRL2",
"gene_hgnc_id": 18582,
"dbsnp": "rs9285611",
"frequency_reference_population": 0.16207531,
"hom_count_reference_population": 2090,
"allele_count_reference_population": 24663,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.162075,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 24663,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2090,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.32,
"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": "ENST00000370725.5",
"gene_symbol": "ADGRL2",
"hgnc_id": 18582,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-142-44441C>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
}