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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: 11-121577381-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=121577381&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SORL1",
"hgnc_id": 11185,
"hgvs_c": "c.3561T>G",
"hgvs_p": "p.Ser1187Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_003105.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 409496,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "SORL1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "S",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10863,
"cdna_start": 3579,
"cds_end": null,
"cds_length": 6645,
"cds_start": 3561,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_003105.6",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.3561T>G",
"hgvs_p": "p.Ser1187Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260197.12",
"protein_coding": true,
"protein_id": "NP_003096.2",
"strand": true,
"transcript": "NM_003105.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "S",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10863,
"cdna_start": 3579,
"cds_end": null,
"cds_length": 6645,
"cds_start": 3561,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000260197.12",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.3561T>G",
"hgvs_p": "p.Ser1187Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003105.6",
"protein_coding": true,
"protein_id": "ENSP00000260197.6",
"strand": true,
"transcript": "ENST00000260197.12",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2212,
"aa_ref": "S",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7017,
"cdna_start": 3573,
"cds_end": null,
"cds_length": 6639,
"cds_start": 3561,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000905166.1",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.3561T>G",
"hgvs_p": "p.Ser1187Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575225.1",
"strand": true,
"transcript": "ENST00000905166.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "S",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6676,
"cdna_start": 3456,
"cds_end": null,
"cds_length": 6522,
"cds_start": 3444,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000905167.1",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.3444T>G",
"hgvs_p": "p.Ser1148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575226.1",
"strand": true,
"transcript": "ENST00000905167.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "S",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 631,
"cds_end": null,
"cds_length": 3477,
"cds_start": 393,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000525532.5",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.393T>G",
"hgvs_p": "p.Ser131Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434634.1",
"strand": true,
"transcript": "ENST00000525532.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "S",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 302,
"cds_end": null,
"cds_length": 3375,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534286.5",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.291T>G",
"hgvs_p": "p.Ser97Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436447.1",
"strand": true,
"transcript": "ENST00000534286.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "S",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": 480,
"cds_end": null,
"cds_length": 3183,
"cds_start": 99,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000532694.5",
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"hgvs_c": "c.99T>G",
"hgvs_p": "p.Ser33Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432131.1",
"strand": true,
"transcript": "ENST00000532694.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2070045",
"effect": "synonymous_variant",
"frequency_reference_population": 0.2544212,
"gene_hgnc_id": 11185,
"gene_symbol": "SORL1",
"gnomad_exomes_ac": 373866,
"gnomad_exomes_af": 0.256536,
"gnomad_exomes_homalt": 54169,
"gnomad_genomes_ac": 35630,
"gnomad_genomes_af": 0.234161,
"gnomad_genomes_homalt": 5264,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 59433,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided|SORL1-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.19,
"pos": 121577381,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003105.6"
}
]
}