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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: 21-42853603-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42853603&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42853603,
"ref": "A",
"alt": "AG",
"effect": "frameshift_variant",
"transcript": "ENST00000398208.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.940dupC",
"hgvs_p": "p.Leu314fs",
"transcript": "NM_018669.6",
"protein_id": "NP_061139.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 412,
"cds_start": 940,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": "ENST00000398208.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.940dupC",
"hgvs_p": "p.Leu314fs",
"transcript": "ENST00000398208.3",
"protein_id": "ENSP00000381266.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 412,
"cds_start": 940,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": "NM_018669.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.940dupC",
"hgvs_p": "p.Leu314fs",
"transcript": "ENST00000330317.6",
"protein_id": "ENSP00000328671.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 412,
"cds_start": 940,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.855dupC",
"hgvs_p": null,
"transcript": "ENST00000476326.5",
"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": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.940dupC",
"hgvs_p": "p.Leu314fs",
"transcript": "NM_033661.5",
"protein_id": "NP_387510.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 412,
"cds_start": 940,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.937dupC",
"hgvs_p": "p.Leu313fs",
"transcript": "NM_001260474.2",
"protein_id": "NP_001247403.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 411,
"cds_start": 937,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.502dupC",
"hgvs_p": "p.Leu168fs",
"transcript": "NM_001260475.2",
"protein_id": "NP_001247404.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 266,
"cds_start": 502,
"cds_end": null,
"cds_length": 801,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.502dupC",
"hgvs_p": "p.Leu168fs",
"transcript": "NM_001260476.2",
"protein_id": "NP_001247405.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 266,
"cds_start": 502,
"cds_end": null,
"cds_length": 801,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.502dupC",
"hgvs_p": "p.Leu168fs",
"transcript": "NM_001260477.2",
"protein_id": "NP_001247406.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 266,
"cds_start": 502,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.928dupC",
"hgvs_p": "p.Leu310fs",
"transcript": "XM_011529433.2",
"protein_id": "XP_011527735.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 408,
"cds_start": 928,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.670dupC",
"hgvs_p": "p.Leu224fs",
"transcript": "XM_017028263.2",
"protein_id": "XP_016883752.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 322,
"cds_start": 670,
"cds_end": null,
"cds_length": 969,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.670dupC",
"hgvs_p": "p.Leu224fs",
"transcript": "XM_017028264.2",
"protein_id": "XP_016883753.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 322,
"cds_start": 670,
"cds_end": null,
"cds_length": 969,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.502dupC",
"hgvs_p": "p.Leu168fs",
"transcript": "XM_024452047.2",
"protein_id": "XP_024307815.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 266,
"cds_start": 502,
"cds_end": null,
"cds_length": 801,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.502dupC",
"hgvs_p": "p.Leu168fs",
"transcript": "XM_024452048.2",
"protein_id": "XP_024307816.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 266,
"cds_start": 502,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.1083dupC",
"hgvs_p": null,
"transcript": "ENST00000492742.5",
"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": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.920dupC",
"hgvs_p": null,
"transcript": "NR_048535.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"dbsnp": "rs776760122",
"frequency_reference_population": 0.0000013713677,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137137,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.985,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000398208.3",
"gene_symbol": "WDR4",
"hgnc_id": 12756,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.940dupC",
"hgvs_p": "p.Leu314fs"
}
],
"clinvar_disease": "Galloway-Mowat syndrome 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Galloway-Mowat syndrome 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}