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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: 9-124855935-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124855935&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 124855935,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001276374.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "NM_001045476.3",
"protein_id": "NP_001038941.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 314,
"cds_start": 382,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373574.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001045476.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "ENST00000373574.2",
"protein_id": "ENSP00000362677.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 314,
"cds_start": 382,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001045476.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373574.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "ENST00000613760.4",
"protein_id": "ENSP00000483312.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 315,
"cds_start": 382,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613760.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Trp",
"transcript": "ENST00000618744.4",
"protein_id": "ENSP00000483432.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 266,
"cds_start": 235,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618744.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Trp",
"transcript": "ENST00000945323.1",
"protein_id": "ENSP00000615382.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 326,
"cds_start": 496,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945323.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "NM_001276374.2",
"protein_id": "NP_001263303.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 315,
"cds_start": 382,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276374.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "ENST00000862303.1",
"protein_id": "ENSP00000532362.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 312,
"cds_start": 382,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862303.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Trp",
"transcript": "NM_001276375.2",
"protein_id": "NP_001263304.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 304,
"cds_start": 349,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276375.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Trp",
"transcript": "ENST00000862305.1",
"protein_id": "ENSP00000532364.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 304,
"cds_start": 349,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862305.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Trp",
"transcript": "ENST00000945324.1",
"protein_id": "ENSP00000615383.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 303,
"cds_start": 349,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945324.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "ENST00000862300.1",
"protein_id": "ENSP00000532359.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 288,
"cds_start": 382,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862300.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "ENST00000862301.1",
"protein_id": "ENSP00000532360.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 287,
"cds_start": 382,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862301.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Trp",
"transcript": "ENST00000862302.1",
"protein_id": "ENSP00000532361.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 277,
"cds_start": 349,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862302.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Trp",
"transcript": "NM_001276376.2",
"protein_id": "NP_001263305.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 266,
"cds_start": 235,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276376.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "ENST00000862304.1",
"protein_id": "ENSP00000532363.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 230,
"cds_start": 208,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862304.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp",
"transcript": "XM_005251987.5",
"protein_id": "XP_005252044.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 288,
"cds_start": 382,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251987.5"
}
],
"gene_symbol": "WDR38",
"gene_hgnc_id": 23745,
"dbsnp": "rs535599560",
"frequency_reference_population": 0.000022304197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000212076,
"gnomad_genomes_af": 0.0000328291,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29567843675613403,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1573,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.298,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001276374.2",
"gene_symbol": "WDR38",
"hgnc_id": 23745,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Trp"
}
],
"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
}