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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: 9-35562918-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35562918&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35562918,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001287239.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg",
"transcript": "NM_001164310.3",
"protein_id": "NP_001157782.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 275,
"cds_start": 449,
"cds_end": null,
"cds_length": 828,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": "ENST00000399742.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164310.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg",
"transcript": "ENST00000399742.7",
"protein_id": "ENSP00000382646.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 275,
"cds_start": 449,
"cds_end": null,
"cds_length": 828,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": "NM_001164310.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399742.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg",
"transcript": "ENST00000447837.1",
"protein_id": "ENSP00000412746.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 216,
"cds_start": 449,
"cds_end": null,
"cds_length": 651,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447837.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg",
"transcript": "NM_001287239.2",
"protein_id": "NP_001274168.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 306,
"cds_start": 449,
"cds_end": null,
"cds_length": 921,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287239.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"transcript": "ENST00000492890.5",
"protein_id": "ENSP00000513459.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 295,
"cds_start": 416,
"cds_end": null,
"cds_length": 888,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492890.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg",
"transcript": "NM_001287238.2",
"protein_id": "NP_001274167.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 263,
"cds_start": 449,
"cds_end": null,
"cds_length": 792,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287238.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg",
"transcript": "NM_001099951.4",
"protein_id": "NP_001093421.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 216,
"cds_start": 449,
"cds_end": null,
"cds_length": 651,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099951.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "c.434C>G",
"hgvs_p": "p.Pro145Arg",
"transcript": "XM_011518028.3",
"protein_id": "XP_011516330.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 301,
"cds_start": 434,
"cds_end": null,
"cds_length": 906,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518028.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "n.40C>G",
"hgvs_p": null,
"transcript": "ENST00000478246.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000478246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"hgvs_c": "n.130C>G",
"hgvs_p": null,
"transcript": "ENST00000480287.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480287.1"
}
],
"gene_symbol": "CIMIP2B",
"gene_hgnc_id": 34242,
"dbsnp": "rs528294208",
"frequency_reference_population": 6.841312e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84131e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10947439074516296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0861,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.796,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001287239.2",
"gene_symbol": "CIMIP2B",
"hgnc_id": 34242,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Pro150Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}