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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: 1-213997031-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=213997031&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 213997031,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001270616.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "NM_001270616.2",
"protein_id": "NP_001257545.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 8468,
"mane_select": "ENST00000366958.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "ENST00000366958.9",
"protein_id": "ENSP00000355925.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 8468,
"mane_select": "NM_001270616.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "ENST00000435016.2",
"protein_id": "ENSP00000400694.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "NM_002763.5",
"protein_id": "NP_002754.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 8146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "ENST00000471129.1",
"protein_id": "ENSP00000419517.1",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 229,
"cds_start": 496,
"cds_end": null,
"cds_length": 690,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_005273194.3",
"protein_id": "XP_005273251.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 8214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_005273195.5",
"protein_id": "XP_005273252.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 7810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_011509771.2",
"protein_id": "XP_011508073.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 8320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_011509772.3",
"protein_id": "XP_011508074.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 7767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_011509773.3",
"protein_id": "XP_011508075.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 7876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_017001832.2",
"protein_id": "XP_016857321.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_047425558.1",
"protein_id": "XP_047281514.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 7892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_047425572.1",
"protein_id": "XP_047281528.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 738,
"cds_start": 496,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 8960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_017001833.2",
"protein_id": "XP_016857322.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 8064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_047425574.1",
"protein_id": "XP_047281530.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 8021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_047425575.1",
"protein_id": "XP_047281531.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 8574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser",
"transcript": "XM_047425585.1",
"protein_id": "XP_047281541.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 737,
"cds_start": 496,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"hgvs_c": "c.*67C>A",
"hgvs_p": null,
"transcript": "ENST00000607425.1",
"protein_id": "ENSP00000475357.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PROX1",
"gene_hgnc_id": 9459,
"dbsnp": null,
"frequency_reference_population": 6.8404694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8779033422470093,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.529,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.002,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001270616.2",
"gene_symbol": "PROX1",
"hgnc_id": 9459,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}