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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: 3-49012549-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49012549&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49012549,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000608424.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Ala339Thr",
"transcript": "NM_018031.6",
"protein_id": "NP_060501.4",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1015,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000608424.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Ala339Thr",
"transcript": "ENST00000608424.6",
"protein_id": "ENSP00000477389.1",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1015,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_018031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "ENST00000395474.7",
"protein_id": "ENSP00000378857.3",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1105,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Ala369Thr",
"transcript": "ENST00000610967.4",
"protein_id": "ENSP00000484799.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1105,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*927G>A",
"hgvs_p": null,
"transcript": "ENST00000420783.7",
"protein_id": "ENSP00000395993.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*1022G>A",
"hgvs_p": null,
"transcript": "ENST00000452875.5",
"protein_id": "ENSP00000414157.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.1044G>A",
"hgvs_p": null,
"transcript": "ENST00000471162.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*927G>A",
"hgvs_p": null,
"transcript": "ENST00000420783.7",
"protein_id": "ENSP00000395993.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*1022G>A",
"hgvs_p": null,
"transcript": "ENST00000452875.5",
"protein_id": "ENSP00000414157.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Ala313Thr",
"transcript": "NM_001320546.3",
"protein_id": "NP_001307475.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 1095,
"cds_start": 937,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Ala288Thr",
"transcript": "NM_001320547.2",
"protein_id": "NP_001307476.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1070,
"cds_start": 862,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Ala288Thr",
"transcript": "ENST00000448293.5",
"protein_id": "ENSP00000413432.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 1070,
"cds_start": 862,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Ala339Thr",
"transcript": "XM_047447371.1",
"protein_id": "XP_047303327.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 944,
"cds_start": 1015,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.670G>A",
"hgvs_p": null,
"transcript": "ENST00000489684.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "c.101-742G>A",
"hgvs_p": null,
"transcript": "ENST00000415265.6",
"protein_id": "ENSP00000412195.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*115G>A",
"hgvs_p": null,
"transcript": "ENST00000461687.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*122G>A",
"hgvs_p": null,
"transcript": "ENST00000472878.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"hgvs_c": "n.*186G>A",
"hgvs_p": null,
"transcript": "ENST00000488572.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR6",
"gene_hgnc_id": 12758,
"dbsnp": "rs757785170",
"frequency_reference_population": 0.000048950296,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000533596,
"gnomad_genomes_af": 0.00000657454,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04388934373855591,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.924,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608424.6",
"gene_symbol": "WDR6",
"hgnc_id": 12758,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Ala339Thr"
}
],
"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
}