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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: 16-11255329-GGGGGCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11255329&ref=GGGGGCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11255329,
"ref": "GGGGGCC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000332029.4",
"consequences": [
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS1",
"gene_hgnc_id": 19383,
"hgvs_c": "c.144_149delGGCCCC",
"hgvs_p": "p.Ala49_Pro50del",
"transcript": "NM_003745.2",
"protein_id": "NP_003736.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 211,
"cds_start": 144,
"cds_end": null,
"cds_length": 636,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": "ENST00000332029.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS1",
"gene_hgnc_id": 19383,
"hgvs_c": "c.144_149delGGCCCC",
"hgvs_p": "p.Ala49_Pro50del",
"transcript": "ENST00000332029.4",
"protein_id": "ENSP00000329418.2",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 211,
"cds_start": 144,
"cds_end": null,
"cds_length": 636,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1238,
"mane_select": "NM_003745.2",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RMI2",
"gene_hgnc_id": 28349,
"hgvs_c": "c.-516+5561_-516+5566delGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000572173.1",
"protein_id": "ENSP00000461206.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PAP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOCS1",
"gene_hgnc_id": 19383,
"hgvs_c": "c.144_149delGGCCCC",
"hgvs_p": "p.Ala49_Pro50del",
"transcript": "ENST00000644787.1",
"protein_id": "ENSP00000496577.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 211,
"cds_start": 144,
"cds_end": null,
"cds_length": 636,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1784,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RMI2",
"gene_hgnc_id": 28349,
"hgvs_c": "n.160+5561_160+5566delGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000573910.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 670,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RMI2",
"gene_hgnc_id": 28349,
"hgvs_c": "n.152+5561_152+5566delGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000649869.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1083,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105371082",
"gene_hgnc_id": null,
"hgvs_c": "n.178+5561_178+5566delGCCGGG",
"hgvs_p": null,
"transcript": "XR_933070.4",
"protein_id": null,
"transcript_support_level": null,
"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": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOCS1",
"gene_hgnc_id": 19383,
"dbsnp": "rs587778691",
"frequency_reference_population": 0.00038786686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 568,
"gnomad_exomes_af": 0.000406105,
"gnomad_genomes_af": 0.000230339,
"gnomad_exomes_ac": 533,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.07,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000332029.4",
"gene_symbol": "SOCS1",
"hgnc_id": 19383,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.144_149delGGCCCC",
"hgvs_p": "p.Ala49_Pro50del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000572173.1",
"gene_symbol": "RMI2",
"hgnc_id": 28349,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-516+5561_-516+5566delGCCGGG",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "XR_933070.4",
"gene_symbol": "LOC105371082",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.178+5561_178+5566delGCCGGG",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}