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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: 2-26924990-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26924990&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DPYSL5",
"hgnc_id": 20637,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020134.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1533,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5547741055488586,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_020134.4",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288699.11",
"protein_coding": true,
"protein_id": "NP_064519.2",
"strand": true,
"transcript": "NM_020134.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000288699.11",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020134.4",
"protein_coding": true,
"protein_id": "ENSP00000288699.6",
"strand": true,
"transcript": "ENST00000288699.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000401478.5",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385549.1",
"strand": true,
"transcript": "ENST00000401478.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5420,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001253723.2",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240652.1",
"strand": true,
"transcript": "NM_001253723.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5558,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001253724.2",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240653.1",
"strand": true,
"transcript": "NM_001253724.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5128,
"cdna_start": 443,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000614712.4",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481305.1",
"strand": true,
"transcript": "ENST00000614712.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896871.1",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566930.1",
"strand": true,
"transcript": "ENST00000896871.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1515,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967335.1",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637394.1",
"strand": true,
"transcript": "ENST00000967335.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 188,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 647,
"cdna_start": 443,
"cds_end": null,
"cds_length": 569,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000431402.5",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399581.1",
"strand": true,
"transcript": "ENST00000431402.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 173,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": 401,
"cds_end": null,
"cds_length": 524,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000434719.1",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413075.1",
"strand": true,
"transcript": "ENST00000434719.1",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 621,
"cdna_start": 490,
"cds_end": null,
"cds_length": 496,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000450961.5",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407174.1",
"strand": true,
"transcript": "ENST00000450961.5",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 564,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 464,
"cds_end": null,
"cds_length": 1695,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024453007.2",
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Pro122Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308775.1",
"strand": true,
"transcript": "XM_024453007.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1356024317",
"effect": "missense_variant",
"frequency_reference_population": 6.840619e-7,
"gene_hgnc_id": 20637,
"gene_symbol": "DPYSL5",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84062e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 26924990,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.437,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020134.4"
}
]
}