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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: 20-14326491-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=14326491&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 14326491,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000341420.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "NM_198391.3",
"protein_id": "NP_938205.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": "ENST00000341420.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "ENST00000341420.5",
"protein_id": "ENSP00000339912.4",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": "NM_198391.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "ENST00000378053.3",
"protein_id": "ENSP00000367292.3",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null,
"transcript": "NM_001351661.2",
"protein_id": "NP_001338590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": "ENST00000684519.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null,
"transcript": "ENST00000684519.1",
"protein_id": "ENSP00000507484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": "NM_001351661.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "NM_013281.4",
"protein_id": "NP_037413.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "XM_005260682.5",
"protein_id": "XP_005260739.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 5531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "XM_011529204.3",
"protein_id": "XP_011527506.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "XM_011529205.3",
"protein_id": "XP_011527507.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 649,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 5114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null,
"transcript": "ENST00000642719.1",
"protein_id": "ENSP00000496601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null,
"transcript": "NM_001351663.2",
"protein_id": "NP_001338592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null,
"transcript": "NM_080676.6",
"protein_id": "NP_542407.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null,
"transcript": "ENST00000217246.8",
"protein_id": "ENSP00000217246.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "n.541-166988T>C",
"hgvs_p": null,
"transcript": "ENST00000477147.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "n.263-166988T>C",
"hgvs_p": null,
"transcript": "ENST00000490428.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MACROD2",
"gene_hgnc_id": 16126,
"hgvs_c": "n.299-166988T>C",
"hgvs_p": null,
"transcript": "ENST00000494602.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLRT3",
"gene_hgnc_id": 3762,
"dbsnp": "rs398124654",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11818423867225647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0831,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.146,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000341420.5",
"gene_symbol": "FLRT3",
"hgnc_id": 3762,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg"
},
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000684519.1",
"gene_symbol": "MACROD2",
"hgnc_id": 16126,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.272-166988T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Hypogonadotropic hypogonadism 21 with or without anosmia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hypogonadotropic hypogonadism 21 with or without anosmia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}