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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: 22-42019713-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42019713&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42019713,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152613.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.223A>T",
"hgvs_p": "p.Met75Leu",
"transcript": "NM_152613.3",
"protein_id": "NP_689826.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 309,
"cds_start": 223,
"cds_end": null,
"cds_length": 930,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": "ENST00000328823.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152613.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.223A>T",
"hgvs_p": "p.Met75Leu",
"transcript": "ENST00000328823.13",
"protein_id": "ENSP00000332983.9",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 309,
"cds_start": 223,
"cds_end": null,
"cds_length": 930,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": "NM_152613.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328823.13"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.223A>T",
"hgvs_p": "p.Met75Leu",
"transcript": "ENST00000943073.1",
"protein_id": "ENSP00000613132.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 273,
"cds_start": 223,
"cds_end": null,
"cds_length": 822,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943073.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.319A>T",
"hgvs_p": "p.Met107Leu",
"transcript": "XM_047441172.1",
"protein_id": "XP_047297128.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 341,
"cds_start": 319,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441172.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.319A>T",
"hgvs_p": "p.Met107Leu",
"transcript": "XM_047441173.1",
"protein_id": "XP_047297129.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 341,
"cds_start": 319,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441173.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.223A>T",
"hgvs_p": "p.Met75Leu",
"transcript": "XM_047441174.1",
"protein_id": "XP_047297130.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 309,
"cds_start": 223,
"cds_end": null,
"cds_length": 930,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441174.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.223A>T",
"hgvs_p": "p.Met75Leu",
"transcript": "XM_047441175.1",
"protein_id": "XP_047297131.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 309,
"cds_start": 223,
"cds_end": null,
"cds_length": 930,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441175.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Met6Leu",
"transcript": "XM_047441176.1",
"protein_id": "XP_047297132.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 240,
"cds_start": 16,
"cds_end": null,
"cds_length": 723,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441176.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Met6Leu",
"transcript": "XM_047441177.1",
"protein_id": "XP_047297133.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 240,
"cds_start": 16,
"cds_end": null,
"cds_length": 723,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441177.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "c.16A>T",
"hgvs_p": "p.Met6Leu",
"transcript": "XM_047441178.1",
"protein_id": "XP_047297134.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 240,
"cds_start": 16,
"cds_end": null,
"cds_length": 723,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441178.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "n.223A>T",
"hgvs_p": null,
"transcript": "ENST00000329620.9",
"protein_id": "ENSP00000328800.5",
"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": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000329620.9"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "n.223A>T",
"hgvs_p": null,
"transcript": "ENST00000412113.5",
"protein_id": "ENSP00000389598.1",
"transcript_support_level": 5,
"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": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412113.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "n.223A>T",
"hgvs_p": null,
"transcript": "ENST00000436265.5",
"protein_id": "ENSP00000401002.1",
"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": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436265.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "n.172-43A>T",
"hgvs_p": null,
"transcript": "ENST00000445185.1",
"protein_id": "ENSP00000400236.1",
"transcript_support_level": 3,
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"hgvs_c": "n.94-291A>T",
"hgvs_p": null,
"transcript": "ENST00000475341.5",
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475341.5"
}
],
"gene_symbol": "WBP2NL",
"gene_hgnc_id": 28389,
"dbsnp": "rs1309654134",
"frequency_reference_population": 0.0000027362028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027362,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7057874202728271,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.395,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3584,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.763,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152613.3",
"gene_symbol": "WBP2NL",
"hgnc_id": 28389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.223A>T",
"hgvs_p": "p.Met75Leu"
}
],
"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
}