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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: 10-48834906-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=48834906&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 48834906,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000325239.12",
"consequences": [
{
"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": 62,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "NM_001394531.1",
"protein_id": "NP_001381460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10082,
"mane_select": "ENST00000325239.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "ENST00000325239.12",
"protein_id": "ENSP00000320563.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10082,
"mane_select": "NM_001394531.1",
"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": 62,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "NM_020945.2",
"protein_id": "NP_065996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286993",
"gene_hgnc_id": null,
"hgvs_c": "n.261+196T>C",
"hgvs_p": null,
"transcript": "ENST00000760415.1",
"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": 351,
"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": 62,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "XM_011539986.4",
"protein_id": "XP_011538288.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10042,
"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": 63,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "XM_011539988.3",
"protein_id": "XP_011538290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10166,
"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": 63,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "XM_017016463.2",
"protein_id": "XP_016871952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10126,
"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": 63,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "XM_047425565.1",
"protein_id": "XP_047281521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3184,
"cds_start": -4,
"cds_end": null,
"cds_length": 9555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10107,
"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": 62,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "XM_011539987.3",
"protein_id": "XP_011538289.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3177,
"cds_start": -4,
"cds_end": null,
"cds_length": 9534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10021,
"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": 54,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.5025+2197A>G",
"hgvs_p": null,
"transcript": "XM_047425566.1",
"protein_id": "XP_047281522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2638,
"cds_start": -4,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8435,
"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": 44,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null,
"transcript": "XM_011539990.4",
"protein_id": "XP_011538292.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2395,
"cds_start": -4,
"cds_end": null,
"cds_length": 7188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8274,
"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": 44,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.3087+2197A>G",
"hgvs_p": null,
"transcript": "XM_017016464.1",
"protein_id": "XP_016871953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1992,
"cds_start": -4,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105378299",
"gene_hgnc_id": null,
"hgvs_c": "n.282+196T>C",
"hgvs_p": null,
"transcript": "XR_945951.3",
"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": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105378299",
"gene_hgnc_id": null,
"hgvs_c": "n.261-193T>C",
"hgvs_p": null,
"transcript": "XR_945952.3",
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"dbsnp": "rs877819",
"frequency_reference_population": 0.44803077,
"hom_count_reference_population": 16255,
"allele_count_reference_population": 68141,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.448031,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 68141,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16255,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.649,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000325239.12",
"gene_symbol": "WDFY4",
"hgnc_id": 29323,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6663+2197A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000760415.1",
"gene_symbol": "ENSG00000286993",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261+196T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_945951.3",
"gene_symbol": "LOC105378299",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.282+196T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}