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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: 7-96121274-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=96121274&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 96121274,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000265631.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Gly649Arg",
"transcript": "NM_014251.3",
"protein_id": "NP_055066.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 675,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000265631.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Gly649Arg",
"transcript": "ENST00000265631.10",
"protein_id": "ENSP00000265631.6",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 675,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014251.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1948G>C",
"hgvs_p": "p.Gly650Arg",
"transcript": "ENST00000416240.6",
"protein_id": "ENSP00000400101.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 676,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1948G>C",
"hgvs_p": "p.Gly650Arg",
"transcript": "NM_001160210.2",
"protein_id": "NP_001153682.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 676,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.2083G>C",
"hgvs_p": "p.Gly695Arg",
"transcript": "XM_017011663.2",
"protein_id": "XP_016867152.2",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 721,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1978G>C",
"hgvs_p": "p.Gly660Arg",
"transcript": "XM_047419712.1",
"protein_id": "XP_047275668.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 686,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Gly365Arg",
"transcript": "XM_047419715.1",
"protein_id": "XP_047275671.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 391,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1174,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.448G>C",
"hgvs_p": null,
"transcript": "ENST00000494085.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 766,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A13",
"gene_hgnc_id": 10983,
"hgvs_c": "n.1971G>C",
"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": "rs757317844",
"frequency_reference_population": 0.00008240397,
"hom_count_reference_population": 0,
"allele_count_reference_population": 133,
"gnomad_exomes_af": 0.0000786662,
"gnomad_genomes_af": 0.000118323,
"gnomad_exomes_ac": 115,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8661487102508545,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.804,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9538,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.764,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000265631.10",
"gene_symbol": "SLC25A13",
"hgnc_id": 10983,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1945G>C",
"hgvs_p": "p.Gly649Arg"
}
],
"clinvar_disease": " adult-onset, type II,Citrin deficiency,Citrullinemia,Citrullinemia type I,Citrullinemia type II,Inborn genetic diseases,Late-onset citrullinemia,Neonatal intrahepatic cholestasis due to citrin deficiency,SLC25A13-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "Citrullinemia type I|Citrin deficiency|not provided|Late-onset citrullinemia|SLC25A13-related disorder|Citrullinemia type II|Neonatal intrahepatic cholestasis due to citrin deficiency;Citrullinemia, type II, adult-onset|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}