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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: 2-31368051-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=31368051&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 31368051,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000379.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "NM_000379.4",
"protein_id": "NP_000370.2",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1333,
"cds_start": 2107,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": "ENST00000379416.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000379.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "ENST00000379416.4",
"protein_id": "ENSP00000368727.3",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 1333,
"cds_start": 2107,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 5715,
"mane_select": "NM_000379.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379416.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2215A>G",
"hgvs_p": "p.Ile739Val",
"transcript": "ENST00000879520.1",
"protein_id": "ENSP00000549579.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1369,
"cds_start": 2215,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879520.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2116A>G",
"hgvs_p": "p.Ile706Val",
"transcript": "ENST00000879524.1",
"protein_id": "ENSP00000549583.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 1336,
"cds_start": 2116,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879524.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2104A>G",
"hgvs_p": "p.Ile702Val",
"transcript": "ENST00000879522.1",
"protein_id": "ENSP00000549581.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1332,
"cds_start": 2104,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879522.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "ENST00000879523.1",
"protein_id": "ENSP00000549582.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1313,
"cds_start": 2107,
"cds_end": null,
"cds_length": 3942,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879523.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "ENST00000879525.1",
"protein_id": "ENSP00000549584.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1310,
"cds_start": 2107,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879525.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "ENST00000879521.1",
"protein_id": "ENSP00000549580.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1274,
"cds_start": 2107,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879521.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.1501A>G",
"hgvs_p": "p.Ile501Val",
"transcript": "ENST00000879526.1",
"protein_id": "ENSP00000549585.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1501,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879526.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2104A>G",
"hgvs_p": "p.Ile702Val",
"transcript": "XM_011533095.3",
"protein_id": "XP_011531397.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 1332,
"cds_start": 2104,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 5712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533095.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val",
"transcript": "XM_011533096.3",
"protein_id": "XP_011531398.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2107,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533096.3"
}
],
"gene_symbol": "XDH",
"gene_hgnc_id": 12805,
"dbsnp": "rs17011368",
"frequency_reference_population": 0.03640736,
"hom_count_reference_population": 1453,
"allele_count_reference_population": 58759,
"gnomad_exomes_af": 0.0344975,
"gnomad_genomes_af": 0.0547377,
"gnomad_exomes_ac": 50423,
"gnomad_genomes_ac": 8336,
"gnomad_exomes_homalt": 1131,
"gnomad_genomes_homalt": 322,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027359426021575928,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0778,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.642,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000379.4",
"gene_symbol": "XDH",
"hgnc_id": 12805,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2107A>G",
"hgvs_p": "p.Ile703Val"
}
],
"clinvar_disease": "Hereditary xanthinuria type 1,Xanthinuria type II,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|Hereditary xanthinuria type 1|Xanthinuria type II|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}