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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: 7-96131829-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=96131829&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 96131829,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265631.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Pro502Arg",
"transcript": "NM_014251.3",
"protein_id": "NP_055066.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 675,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000265631.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Pro502Arg",
"transcript": "ENST00000265631.10",
"protein_id": "ENSP00000265631.6",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 675,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014251.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Pro503Arg",
"transcript": "ENST00000416240.6",
"protein_id": "ENSP00000400101.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 676,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Pro503Arg",
"transcript": "NM_001160210.2",
"protein_id": "NP_001153682.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 676,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1643C>G",
"hgvs_p": "p.Pro548Arg",
"transcript": "XM_017011663.2",
"protein_id": "XP_016867152.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 721,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1538C>G",
"hgvs_p": "p.Pro513Arg",
"transcript": "XM_047419712.1",
"protein_id": "XP_047275668.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 686,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.653C>G",
"hgvs_p": "p.Pro218Arg",
"transcript": "XM_047419715.1",
"protein_id": "XP_047275671.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 391,
"cds_start": 653,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 2228,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.1531C>G",
"hgvs_p": null,
"transcript": "NR_027662.2",
"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": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"dbsnp": "rs139149160",
"frequency_reference_population": 0.0000065748814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9183530807495117,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.874,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000265631.10",
"gene_symbol": "SLC25A13",
"hgnc_id": 10983,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Pro502Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}