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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: 2-131053010-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=131053010&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 131053010,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000389915.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001009993.4",
"protein_id": "NP_001009993.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 5435,
"mane_select": "ENST00000389915.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "ENST00000389915.4",
"protein_id": "ENSP00000374565.3",
"transcript_support_level": 3,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 5435,
"mane_select": "NM_001009993.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "ENST00000409185.5",
"protein_id": "ENSP00000387051.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001321743.1",
"protein_id": "NP_001308672.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001321744.1",
"protein_id": "NP_001308673.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001321745.1",
"protein_id": "NP_001308674.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001321746.2",
"protein_id": "NP_001308675.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001321747.2",
"protein_id": "NP_001308676.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "NM_001321748.2",
"protein_id": "NP_001308677.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "XM_017003327.2",
"protein_id": "XP_016858816.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "XM_047443336.1",
"protein_id": "XP_047299292.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "XM_047443337.1",
"protein_id": "XP_047299293.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "XM_047443338.1",
"protein_id": "XP_047299294.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val",
"transcript": "XM_047443339.1",
"protein_id": "XP_047299295.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 195,
"cds_start": 481,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 5855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"hgvs_c": "c.400C>G",
"hgvs_p": "p.Leu134Val",
"transcript": "XM_011510594.4",
"protein_id": "XP_011508896.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 168,
"cds_start": 400,
"cds_end": null,
"cds_length": 507,
"cdna_start": 4759,
"cdna_end": null,
"cdna_length": 9455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM168B",
"gene_hgnc_id": 27016,
"dbsnp": "rs1195553328",
"frequency_reference_population": 0.0000014309529,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000143095,
"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": 0.5930960774421692,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.3395,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.588,
"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": "ENST00000389915.4",
"gene_symbol": "FAM168B",
"hgnc_id": 27016,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.481C>G",
"hgvs_p": "p.Leu161Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}