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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: 3-183825243-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183825243&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183825243,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024871.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly",
"transcript": "NM_024871.4",
"protein_id": "NP_079147.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 199,
"cds_start": 305,
"cds_end": null,
"cds_length": 600,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "ENST00000318631.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024871.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly",
"transcript": "ENST00000318631.8",
"protein_id": "ENSP00000314560.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 199,
"cds_start": 305,
"cds_end": null,
"cds_length": 600,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "NM_024871.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318631.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283765",
"gene_hgnc_id": null,
"hgvs_c": "c.1029-7132C>G",
"hgvs_p": null,
"transcript": "ENST00000639401.1",
"protein_id": "ENSP00000491227.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": null,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639401.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly",
"transcript": "ENST00000933005.1",
"protein_id": "ENSP00000603064.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 212,
"cds_start": 305,
"cds_end": null,
"cds_length": 639,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933005.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly",
"transcript": "ENST00000431348.1",
"protein_id": "ENSP00000388945.1",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 182,
"cds_start": 305,
"cds_end": null,
"cds_length": 549,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431348.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"hgvs_c": "n.278C>G",
"hgvs_p": null,
"transcript": "ENST00000445426.1",
"protein_id": "ENSP00000390816.1",
"transcript_support_level": 4,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"hgvs_c": "n.-18C>G",
"hgvs_p": null,
"transcript": "ENST00000463801.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 360,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463801.1"
}
],
"gene_symbol": "MAP6D1",
"gene_hgnc_id": 25753,
"dbsnp": "rs760667646",
"frequency_reference_population": 0.0000024378471,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000243785,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07046309113502502,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.249,
"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": 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_024871.4",
"gene_symbol": "MAP6D1",
"hgnc_id": 25753,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639401.1",
"gene_symbol": "ENSG00000283765",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1029-7132C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}