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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: 9-83290708-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83290708&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83290708,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000304195.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Arg364Gly",
"transcript": "NM_174938.6",
"protein_id": "NP_777598.3",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 597,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 5260,
"mane_select": "ENST00000304195.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Arg364Gly",
"transcript": "ENST00000304195.8",
"protein_id": "ENSP00000303508.3",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 597,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 5260,
"mane_select": "NM_174938.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"transcript": "ENST00000621208.4",
"protein_id": "ENSP00000484839.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 553,
"cds_start": 958,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Arg170Gly",
"transcript": "ENST00000376434.5",
"protein_id": "ENSP00000365617.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 362,
"cds_start": 508,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Arg364Gly",
"transcript": "NM_001244959.2",
"protein_id": "NP_001231888.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 556,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Arg364Gly",
"transcript": "ENST00000376438.5",
"protein_id": "ENSP00000365621.1",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 556,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Arg320Gly",
"transcript": "NM_001244960.2",
"protein_id": "NP_001231889.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 553,
"cds_start": 958,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Arg170Gly",
"transcript": "NM_001244961.2",
"protein_id": "NP_001231890.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 362,
"cds_start": 508,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.967C>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "XM_017014588.2",
"protein_id": "XP_016870077.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 556,
"cds_start": 967,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Arg268Gly",
"transcript": "XM_024447487.2",
"protein_id": "XP_024303255.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 501,
"cds_start": 802,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Arg268Gly",
"transcript": "XM_024447488.2",
"protein_id": "XP_024303256.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 501,
"cds_start": 802,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 6053,
"cdna_end": null,
"cdna_length": 10053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Arg268Gly",
"transcript": "XM_047423153.1",
"protein_id": "XP_047279109.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 501,
"cds_start": 802,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Arg268Gly",
"transcript": "XM_047423154.1",
"protein_id": "XP_047279110.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 501,
"cds_start": 802,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.802C>G",
"hgvs_p": "p.Arg268Gly",
"transcript": "XM_047423155.1",
"protein_id": "XP_047279111.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 501,
"cds_start": 802,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Arg170Gly",
"transcript": "XM_017014589.2",
"protein_id": "XP_016870078.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 403,
"cds_start": 508,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"dbsnp": "rs755092589",
"frequency_reference_population": 0.0000013698199,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136982,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6989648342132568,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2144,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.028,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000304195.8",
"gene_symbol": "FRMD3",
"hgnc_id": 24125,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Arg364Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}