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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-154887471-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154887471&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154887471,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012151.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8A1",
"gene_hgnc_id": 3547,
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Pro366Arg",
"transcript": "NM_012151.4",
"protein_id": "NP_036283.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": "ENST00000610495.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8A1",
"gene_hgnc_id": 3547,
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Pro366Arg",
"transcript": "ENST00000610495.2",
"protein_id": "ENSP00000479624.1",
"transcript_support_level": 6,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": "NM_012151.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.6429+8606G>C",
"hgvs_p": null,
"transcript": "NM_000132.4",
"protein_id": "NP_000123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2351,
"cds_start": -4,
"cds_end": null,
"cds_length": 7056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9032,
"mane_select": "ENST00000360256.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.6429+8606G>C",
"hgvs_p": null,
"transcript": "ENST00000360256.9",
"protein_id": "ENSP00000353393.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2351,
"cds_start": -4,
"cds_end": null,
"cds_length": 7056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9032,
"mane_select": "NM_000132.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1184-1",
"gene_hgnc_id": 35265,
"hgvs_c": "n.-13G>C",
"hgvs_p": null,
"transcript": "ENST00000408606.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 99,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1184-1",
"gene_hgnc_id": 35265,
"hgvs_c": "n.-13G>C",
"hgvs_p": null,
"transcript": "NR_036049.1",
"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": 99,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR1184-1",
"gene_hgnc_id": 35265,
"hgvs_c": "n.-73G>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_3892",
"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": 23,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "F8A1",
"gene_hgnc_id": 3547,
"dbsnp": "rs1603432445",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000209245,
"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": 0.49765169620513916,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.523,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_012151.4",
"gene_symbol": "F8A1",
"hgnc_id": 3547,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Pro366Arg"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000132.4",
"gene_symbol": "F8",
"hgnc_id": 3546,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.6429+8606G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_036049.1",
"gene_symbol": "MIR1184-1",
"hgnc_id": 35265,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-13G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Hereditary factor VIII deficiency disease",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary factor VIII deficiency disease",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}