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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: 3-184038603-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184038603&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184038603,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001163646.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "NM_001145143.1",
"protein_id": "NP_001138615.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 404,
"cds_start": 964,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428798.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145143.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Leu322Val",
"transcript": "ENST00000428798.7",
"protein_id": "ENSP00000405409.2",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 404,
"cds_start": 964,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145143.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428798.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.1114C>G",
"hgvs_p": "p.Leu372Val",
"transcript": "ENST00000382489.3",
"protein_id": "ENSP00000371929.3",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 454,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382489.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Leu197Val",
"transcript": "ENST00000334128.6",
"protein_id": "ENSP00000334315.2",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 279,
"cds_start": 589,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334128.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Leu151Val",
"transcript": "ENST00000453435.1",
"protein_id": "ENSP00000389268.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 233,
"cds_start": 451,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453435.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.1114C>G",
"hgvs_p": "p.Leu372Val",
"transcript": "NM_001163646.2",
"protein_id": "NP_001157118.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 454,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163646.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Leu197Val",
"transcript": "NM_182537.3",
"protein_id": "NP_872343.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 279,
"cds_start": 589,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182537.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HTR3D",
"gene_hgnc_id": 24004,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Leu151Val",
"transcript": "NM_001410851.1",
"protein_id": "NP_001397780.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 233,
"cds_start": 451,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410851.1"
}
],
"gene_symbol": "HTR3D",
"gene_hgnc_id": 24004,
"dbsnp": "rs75040538",
"frequency_reference_population": 0.06086079,
"hom_count_reference_population": 3686,
"allele_count_reference_population": 98204,
"gnomad_exomes_af": 0.0612342,
"gnomad_genomes_af": 0.0572776,
"gnomad_exomes_ac": 89482,
"gnomad_genomes_ac": 8722,
"gnomad_exomes_homalt": 3376,
"gnomad_genomes_homalt": 310,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017104148864746094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.0905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.455,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001163646.2",
"gene_symbol": "HTR3D",
"hgnc_id": 24004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1114C>G",
"hgvs_p": "p.Leu372Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}