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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: 16-74418117-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74418117&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 74418117,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001011880.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_001385193.1",
"protein_id": "NP_001372122.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682950.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385193.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000682950.1",
"protein_id": "ENSP00000507367.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385193.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682950.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000339953.9",
"protein_id": "ENSP00000341051.5",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 455,
"cds_start": 398,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339953.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_001011880.3",
"protein_id": "NP_001011880.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 455,
"cds_start": 398,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011880.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_001385192.1",
"protein_id": "NP_001372121.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385192.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000890001.1",
"protein_id": "ENSP00000560060.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890001.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000890002.1",
"protein_id": "ENSP00000560061.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890002.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434172.1",
"protein_id": "XP_047290128.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434172.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434173.1",
"protein_id": "XP_047290129.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434173.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434174.1",
"protein_id": "XP_047290130.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434174.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434175.1",
"protein_id": "XP_047290131.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434175.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434176.1",
"protein_id": "XP_047290132.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 446,
"cds_start": 398,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434176.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434177.1",
"protein_id": "XP_047290133.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 391,
"cds_start": 398,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434177.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "XM_047434178.1",
"protein_id": "XP_047290134.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 324,
"cds_start": 398,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434178.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.216+2384G>A",
"hgvs_p": null,
"transcript": "NM_001385194.1",
"protein_id": "NP_001372123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385194.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.216+2384G>A",
"hgvs_p": null,
"transcript": "NM_001385195.1",
"protein_id": "NP_001372124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385195.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "c.216+2384G>A",
"hgvs_p": null,
"transcript": "ENST00000890003.1",
"protein_id": "ENSP00000560062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"hgvs_c": "n.416+2384G>A",
"hgvs_p": null,
"transcript": "ENST00000425714.2",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000425714.2"
}
],
"gene_symbol": "CLEC18B",
"gene_hgnc_id": 33849,
"dbsnp": "rs199857045",
"frequency_reference_population": 0.00017148246,
"hom_count_reference_population": 17,
"allele_count_reference_population": 264,
"gnomad_exomes_af": 0.000178701,
"gnomad_genomes_af": 0.00009962,
"gnomad_exomes_ac": 250,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024249553680419922,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.686,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001011880.3",
"gene_symbol": "CLEC18B",
"hgnc_id": 33849,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}