← Back to variant description
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: 12-9854472-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9854472&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9854472,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005127.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "NM_005127.3",
"protein_id": "NP_005118.2",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": "ENST00000228438.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005127.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000228438.3",
"protein_id": "ENSP00000228438.2",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": "NM_005127.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228438.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000893503.1",
"protein_id": "ENSP00000563562.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893503.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000893504.1",
"protein_id": "ENSP00000563563.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893504.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000893505.1",
"protein_id": "ENSP00000563564.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893505.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000893506.1",
"protein_id": "ENSP00000563565.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893506.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000893507.1",
"protein_id": "ENSP00000563566.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893507.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp",
"transcript": "ENST00000964946.1",
"protein_id": "ENSP00000635005.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 149,
"cds_start": 250,
"cds_end": null,
"cds_length": 450,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964946.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.43C>T",
"hgvs_p": "p.Arg15Trp",
"transcript": "ENST00000538152.1",
"protein_id": "ENSP00000437946.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 80,
"cds_start": 43,
"cds_end": null,
"cds_length": 243,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538152.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"hgvs_c": "c.238-39C>T",
"hgvs_p": null,
"transcript": "ENST00000893508.1",
"protein_id": "ENSP00000563567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893508.1"
}
],
"gene_symbol": "CLEC2B",
"gene_hgnc_id": 2053,
"dbsnp": "rs144695163",
"frequency_reference_population": 0.00010429458,
"hom_count_reference_population": 0,
"allele_count_reference_population": 168,
"gnomad_exomes_af": 0.000103515,
"gnomad_genomes_af": 0.000111767,
"gnomad_exomes_ac": 151,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25102096796035767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.4179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.653,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005127.3",
"gene_symbol": "CLEC2B",
"hgnc_id": 2053,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84Trp"
}
],
"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
}