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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: 2-95382419-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=95382419&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 95382419,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013434.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.598C>G",
"hgvs_p": "p.Arg200Gly",
"transcript": "NM_013434.5",
"protein_id": "NP_038462.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 256,
"cds_start": 598,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295225.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013434.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.598C>G",
"hgvs_p": "p.Arg200Gly",
"transcript": "ENST00000295225.10",
"protein_id": "ENSP00000295225.5",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 256,
"cds_start": 598,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013434.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295225.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Arg174Gly",
"transcript": "ENST00000468529.1",
"protein_id": "ENSP00000417499.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 520,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468529.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.625C>G",
"hgvs_p": "p.Arg209Gly",
"transcript": "ENST00000873168.1",
"protein_id": "ENSP00000543227.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 265,
"cds_start": 625,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873168.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Arg178Gly",
"transcript": "ENST00000698060.1",
"protein_id": "ENSP00000513541.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 234,
"cds_start": 532,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698060.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.520C>G",
"hgvs_p": "p.Arg174Gly",
"transcript": "NM_001034914.2",
"protein_id": "NP_001030086.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 230,
"cds_start": 520,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034914.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.490C>G",
"hgvs_p": "p.Arg164Gly",
"transcript": "ENST00000873166.1",
"protein_id": "ENSP00000543225.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 220,
"cds_start": 490,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873166.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Arg121Gly",
"transcript": "ENST00000873167.1",
"protein_id": "ENSP00000543226.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 177,
"cds_start": 361,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "n.598C>G",
"hgvs_p": null,
"transcript": "ENST00000360990.7",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000360990.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"hgvs_c": "n.770C>G",
"hgvs_p": null,
"transcript": "ENST00000377181.2",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000377181.2"
}
],
"gene_symbol": "KCNIP3",
"gene_hgnc_id": 15523,
"dbsnp": "rs774695030",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5529937148094177,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.284,
"revel_prediction": "Benign",
"alphamissense_score": 0.1731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.57,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013434.5",
"gene_symbol": "KCNIP3",
"hgnc_id": 15523,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.598C>G",
"hgvs_p": "p.Arg200Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}