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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: 3-167505358-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=167505358&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 167505358,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366157.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.2833A>G",
"hgvs_p": "p.Met945Val",
"transcript": "NM_001366157.1",
"protein_id": "NP_001353086.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682715.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366157.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.2833A>G",
"hgvs_p": "p.Met945Val",
"transcript": "ENST00000682715.1",
"protein_id": "ENSP00000507497.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366157.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682715.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Met593Val",
"transcript": "ENST00000308378.7",
"protein_id": "ENSP00000311343.3",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 697,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308378.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "NM_001348951.2",
"protein_id": "NP_001335880.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348951.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "NM_001348952.2",
"protein_id": "NP_001335881.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348952.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000647816.2",
"protein_id": "ENSP00000497120.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2800,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647816.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.1930A>G",
"hgvs_p": "p.Met644Val",
"transcript": "ENST00000472600.6",
"protein_id": "ENSP00000419130.2",
"transcript_support_level": 2,
"aa_start": 644,
"aa_end": null,
"aa_length": 748,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472600.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Met593Val",
"transcript": "NM_001366158.1",
"protein_id": "NP_001353087.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 697,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366158.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.1738A>G",
"hgvs_p": "p.Met580Val",
"transcript": "ENST00000862151.1",
"protein_id": "ENSP00000532210.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 684,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862151.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.1723A>G",
"hgvs_p": "p.Met575Val",
"transcript": "ENST00000961484.1",
"protein_id": "ENSP00000631543.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 679,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961484.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.1690A>G",
"hgvs_p": "p.Met564Val",
"transcript": "ENST00000961483.1",
"protein_id": "ENSP00000631542.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 668,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961483.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Met132Val",
"transcript": "ENST00000961482.1",
"protein_id": "ENSP00000631541.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 236,
"cds_start": 394,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961482.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "c.*18-26362A>G",
"hgvs_p": null,
"transcript": "ENST00000479765.5",
"protein_id": "ENSP00000419749.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479765.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"hgvs_c": "n.1488A>G",
"hgvs_p": null,
"transcript": "ENST00000476376.5",
"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": "pseudogene",
"feature": "ENST00000476376.5"
}
],
"gene_symbol": "WDR49",
"gene_hgnc_id": 26587,
"dbsnp": "rs373964828",
"frequency_reference_population": 7.220686e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.22069e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04516327381134033,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.396,
"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": "NM_001366157.1",
"gene_symbol": "WDR49",
"hgnc_id": 26587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2833A>G",
"hgvs_p": "p.Met945Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}