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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: 6-43656630-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43656630&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43656630,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372163.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Pro193Thr",
"transcript": "NM_152732.5",
"protein_id": "NP_689945.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 276,
"cds_start": 577,
"cds_end": null,
"cds_length": 831,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": "ENST00000372163.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Pro193Thr",
"transcript": "ENST00000372163.5",
"protein_id": "ENSP00000361236.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 276,
"cds_start": 577,
"cds_end": null,
"cds_length": 831,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": "NM_152732.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Pro193Thr",
"transcript": "NM_001424119.1",
"protein_id": "NP_001411048.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 321,
"cds_start": 577,
"cds_end": null,
"cds_length": 966,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Pro178Thr",
"transcript": "NM_001193341.2",
"protein_id": "NP_001180270.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 306,
"cds_start": 532,
"cds_end": null,
"cds_length": 921,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Pro178Thr",
"transcript": "ENST00000372165.8",
"protein_id": "ENSP00000361238.4",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 306,
"cds_start": 532,
"cds_end": null,
"cds_length": 921,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Pro178Thr",
"transcript": "NM_001424120.1",
"protein_id": "NP_001411049.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 261,
"cds_start": 532,
"cds_end": null,
"cds_length": 786,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Pro193Thr",
"transcript": "NM_001424121.1",
"protein_id": "NP_001411050.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 256,
"cds_start": 577,
"cds_end": null,
"cds_length": 771,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "n.474C>A",
"hgvs_p": null,
"transcript": "NR_187613.1",
"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": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "n.591C>A",
"hgvs_p": null,
"transcript": "NR_187614.1",
"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": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"dbsnp": "rs373236553",
"frequency_reference_population": 0.0000024783178,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205225,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6010020971298218,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.1275,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.172,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000372163.5",
"gene_symbol": "RSPH9",
"hgnc_id": 21057,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Pro193Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}