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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: 1-27409833-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27409833&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27409833,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006990.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "NM_006990.5",
"protein_id": "NP_008921.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": "ENST00000618852.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006990.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000618852.5",
"protein_id": "ENSP00000483313.1",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": "NM_006990.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618852.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000874253.1",
"protein_id": "ENSP00000544312.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874253.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000874254.1",
"protein_id": "ENSP00000544313.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874254.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000874255.1",
"protein_id": "ENSP00000544314.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874255.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000874256.1",
"protein_id": "ENSP00000544315.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874256.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000937041.1",
"protein_id": "ENSP00000607100.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937041.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000937042.1",
"protein_id": "ENSP00000607101.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937042.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000937043.1",
"protein_id": "ENSP00000607102.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 6116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937043.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000937044.1",
"protein_id": "ENSP00000607103.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937044.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000937045.1",
"protein_id": "ENSP00000607104.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937045.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000966003.1",
"protein_id": "ENSP00000636062.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966003.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "ENST00000966004.1",
"protein_id": "ENSP00000636063.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 498,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.825-1487C>T",
"hgvs_p": null,
"transcript": "NM_001201404.3",
"protein_id": "NP_001188333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201404.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"hgvs_c": "c.825-1487C>T",
"hgvs_p": null,
"transcript": "ENST00000536657.1",
"protein_id": "ENSP00000439883.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536657.1"
}
],
"gene_symbol": "WASF2",
"gene_hgnc_id": 12733,
"dbsnp": "rs1449179562",
"frequency_reference_population": 0.0000014994257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000149943,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20315593481063843,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.2023,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.487,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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_006990.5",
"gene_symbol": "WASF2",
"hgnc_id": 12733,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser"
}
],
"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
}