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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: 11-47420702-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47420702&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47420702,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002804.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "NM_002804.5",
"protein_id": "NP_002795.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 439,
"cds_start": 910,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298852.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002804.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "ENST00000298852.8",
"protein_id": "ENSP00000298852.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 439,
"cds_start": 910,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002804.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298852.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "ENST00000619920.4",
"protein_id": "ENSP00000481029.1",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 439,
"cds_start": 910,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619920.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Arg288Gly",
"transcript": "ENST00000602866.5",
"protein_id": "ENSP00000473652.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 423,
"cds_start": 862,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602866.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "ENST00000936758.1",
"protein_id": "ENSP00000606817.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 446,
"cds_start": 910,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936758.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.907C>G",
"hgvs_p": "p.Arg303Gly",
"transcript": "ENST00000970664.1",
"protein_id": "ENSP00000640723.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 438,
"cds_start": 907,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970664.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "ENST00000936757.1",
"protein_id": "ENSP00000606816.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 437,
"cds_start": 910,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936757.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Arg301Gly",
"transcript": "ENST00000936756.1",
"protein_id": "ENSP00000606815.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 436,
"cds_start": 901,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936756.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Arg294Gly",
"transcript": "ENST00000876192.1",
"protein_id": "ENSP00000546251.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 429,
"cds_start": 880,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876192.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.784C>G",
"hgvs_p": "p.Arg262Gly",
"transcript": "ENST00000530912.5",
"protein_id": "ENSP00000433097.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 397,
"cds_start": 784,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530912.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.772C>G",
"hgvs_p": "p.Arg258Gly",
"transcript": "ENST00000970665.1",
"protein_id": "ENSP00000640724.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 393,
"cds_start": 772,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970665.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Arg265Gly",
"transcript": "ENST00000524447.6",
"protein_id": "ENSP00000433596.2",
"transcript_support_level": 3,
"aa_start": 265,
"aa_end": null,
"aa_length": 310,
"cds_start": 793,
"cds_end": null,
"cds_length": 935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524447.6"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.885-1505C>G",
"hgvs_p": null,
"transcript": "ENST00000936755.1",
"protein_id": "ENSP00000606814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936755.1"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"hgvs_c": "c.822-1505C>G",
"hgvs_p": null,
"transcript": "ENST00000876193.1",
"protein_id": "ENSP00000546252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876193.1"
}
],
"gene_symbol": "PSMC3",
"gene_hgnc_id": 9549,
"dbsnp": "rs1363348500",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8791358470916748,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.792,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.467,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002804.5",
"gene_symbol": "PSMC3",
"hgnc_id": 9549,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly"
}
],
"clinvar_disease": "PSMC3-Related Neurodevelopmental Delay",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "PSMC3-Related Neurodevelopmental Delay",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}