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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: 5-115524749-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=115524749&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 115524749,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020177.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "NM_020177.3",
"protein_id": "NP_064562.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274457.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020177.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "ENST00000274457.5",
"protein_id": "ENSP00000274457.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020177.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274457.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "ENST00000855971.1",
"protein_id": "ENSP00000526030.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855971.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "ENST00000855972.1",
"protein_id": "ENSP00000526031.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855972.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "ENST00000855973.1",
"protein_id": "ENSP00000526032.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855973.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser",
"transcript": "ENST00000855974.1",
"protein_id": "ENSP00000526033.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 617,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855974.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"hgvs_c": "c.1386G>T",
"hgvs_p": "p.Arg462Ser",
"transcript": "ENST00000961938.1",
"protein_id": "ENSP00000631997.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 608,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961938.1"
}
],
"gene_symbol": "FEM1C",
"gene_hgnc_id": 16933,
"dbsnp": "rs138090623",
"frequency_reference_population": 0.000014829468,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.00000714838,
"gnomad_genomes_af": 0.0000854993,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21646329760551453,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.315,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.293,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020177.3",
"gene_symbol": "FEM1C",
"hgnc_id": 16933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1413G>T",
"hgvs_p": "p.Arg471Ser"
}
],
"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
}