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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: X-66162843-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=66162843&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 66162843,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "XM_011531073.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.-47T>C",
"hgvs_p": null,
"transcript": "ENST00000519389.6",
"protein_id": "ENSP00000430620.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_011531073.4",
"protein_id": "XP_011529375.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1211,
"cds_start": 116,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Cys27Arg",
"transcript": "XM_047442694.1",
"protein_id": "XP_047298650.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1208,
"cds_start": 79,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_011531074.3",
"protein_id": "XP_011529376.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1141,
"cds_start": 116,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_047442696.1",
"protein_id": "XP_047298652.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1140,
"cds_start": 116,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_011531075.3",
"protein_id": "XP_011529377.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1101,
"cds_start": 116,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala",
"transcript": "XM_017029998.3",
"protein_id": "XP_016885487.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1100,
"cds_start": 116,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Cys27Arg",
"transcript": "XM_047442697.1",
"protein_id": "XP_047298653.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1096,
"cds_start": 79,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Cys27Arg",
"transcript": "XM_047442698.1",
"protein_id": "XP_047298654.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 1026,
"cds_start": 79,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 5366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.-47T>C",
"hgvs_p": null,
"transcript": "NM_138737.6",
"protein_id": "NP_620074.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"hgvs_c": "c.-1240T>C",
"hgvs_p": null,
"transcript": "XM_047442695.1",
"protein_id": "XP_047298651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1161,
"cds_start": -4,
"cds_end": null,
"cds_length": 3486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HEPH",
"gene_hgnc_id": 4866,
"dbsnp": "rs5919015",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.71016,
"gnomad_genomes_af": 0.799569,
"gnomad_exomes_ac": 740343,
"gnomad_genomes_ac": 87951,
"gnomad_exomes_homalt": 178935,
"gnomad_genomes_homalt": 25410,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000017057484456017846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.179,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_011531073.4",
"gene_symbol": "HEPH",
"hgnc_id": 4866,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Val39Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}