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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: 19-7608236-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7608236&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7608236,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001080429.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.732C>G",
"hgvs_p": "p.Cys244Trp",
"transcript": "NM_020902.2",
"protein_id": "NP_065953.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 1249,
"cds_start": 732,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000160298.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020902.2"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.732C>G",
"hgvs_p": "p.Cys244Trp",
"transcript": "ENST00000160298.9",
"protein_id": "ENSP00000160298.3",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 1249,
"cds_start": 732,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020902.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000160298.9"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Cys271Trp",
"transcript": "ENST00000446248.4",
"protein_id": "ENSP00000416797.1",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 1276,
"cds_start": 813,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446248.4"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Cys271Trp",
"transcript": "NM_001080429.3",
"protein_id": "NP_001073898.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 1276,
"cds_start": 813,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080429.3"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.732C>G",
"hgvs_p": "p.Cys244Trp",
"transcript": "ENST00000930508.1",
"protein_id": "ENSP00000600567.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 1272,
"cds_start": 732,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930508.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.801C>G",
"hgvs_p": "p.Cys267Trp",
"transcript": "ENST00000930509.1",
"protein_id": "ENSP00000600568.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 1272,
"cds_start": 801,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930509.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.780C>G",
"hgvs_p": "p.Cys260Trp",
"transcript": "ENST00000867870.1",
"protein_id": "ENSP00000537929.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1265,
"cds_start": 780,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867870.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Cys255Trp",
"transcript": "ENST00000867871.1",
"protein_id": "ENSP00000537930.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 1260,
"cds_start": 765,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867871.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Cys271Trp",
"transcript": "ENST00000930507.1",
"protein_id": "ENSP00000600566.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 1259,
"cds_start": 813,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930507.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.780C>G",
"hgvs_p": "p.Cys260Trp",
"transcript": "ENST00000930505.1",
"protein_id": "ENSP00000600564.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1248,
"cds_start": 780,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930505.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.765C>G",
"hgvs_p": "p.Cys255Trp",
"transcript": "ENST00000930506.1",
"protein_id": "ENSP00000600565.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 1243,
"cds_start": 765,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930506.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"hgvs_c": "c.732C>G",
"hgvs_p": "p.Cys244Trp",
"transcript": "ENST00000867872.1",
"protein_id": "ENSP00000537931.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 1232,
"cds_start": 732,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867872.1"
}
],
"gene_symbol": "CAMSAP3",
"gene_hgnc_id": 29307,
"dbsnp": "rs201741898",
"frequency_reference_population": 0.000077516015,
"hom_count_reference_population": 0,
"allele_count_reference_population": 125,
"gnomad_exomes_af": 0.000079432,
"gnomad_genomes_af": 0.0000591319,
"gnomad_exomes_ac": 116,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.521030068397522,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.6079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.74,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001080429.3",
"gene_symbol": "CAMSAP3",
"hgnc_id": 29307,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.813C>G",
"hgvs_p": "p.Cys271Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}