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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: 2-31337745-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=31337745&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 31337745,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_000379.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283*",
"transcript": "NM_000379.4",
"protein_id": "NP_000370.2",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3847,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": "ENST00000379416.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000379.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283*",
"transcript": "ENST00000379416.4",
"protein_id": "ENSP00000368727.3",
"transcript_support_level": 1,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3847,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": "NM_000379.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379416.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3955C>T",
"hgvs_p": "p.Arg1319*",
"transcript": "ENST00000879520.1",
"protein_id": "ENSP00000549579.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4036,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879520.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3856C>T",
"hgvs_p": "p.Arg1286*",
"transcript": "ENST00000879524.1",
"protein_id": "ENSP00000549583.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3856,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 3932,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879524.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3844C>T",
"hgvs_p": "p.Arg1282*",
"transcript": "ENST00000879522.1",
"protein_id": "ENSP00000549581.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3844,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879522.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3787C>T",
"hgvs_p": "p.Arg1263*",
"transcript": "ENST00000879523.1",
"protein_id": "ENSP00000549582.1",
"transcript_support_level": null,
"aa_start": 1263,
"aa_end": null,
"aa_length": 1313,
"cds_start": 3787,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879523.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3778C>T",
"hgvs_p": "p.Arg1260*",
"transcript": "ENST00000879525.1",
"protein_id": "ENSP00000549584.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1310,
"cds_start": 3778,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879525.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3241C>T",
"hgvs_p": "p.Arg1081*",
"transcript": "ENST00000879526.1",
"protein_id": "ENSP00000549585.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3241,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879526.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3844C>T",
"hgvs_p": "p.Arg1282*",
"transcript": "XM_011533095.3",
"protein_id": "XP_011531397.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3844,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533095.3"
},
{
"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": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.3775-1737C>T",
"hgvs_p": null,
"transcript": "ENST00000879521.1",
"protein_id": "ENSP00000549580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": null,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879521.1"
}
],
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"dbsnp": "rs751921838",
"frequency_reference_population": 0.0000105322115,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.717,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000379.4",
"gene_symbol": "XDH",
"hgnc_id": 12805,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3847C>T",
"hgvs_p": "p.Arg1283*"
}
],
"clinvar_disease": "Xanthinuria type II,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Xanthinuria type II|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}