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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: 5-80059771-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80059771&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80059771,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003248.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "NM_003248.6",
"protein_id": "NP_003239.2",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 961,
"cds_start": 853,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350881.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003248.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000350881.6",
"protein_id": "ENSP00000339730.2",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 961,
"cds_start": 853,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003248.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350881.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Cys",
"transcript": "ENST00000970348.1",
"protein_id": "ENSP00000640407.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 999,
"cds_start": 967,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970348.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000854344.1",
"protein_id": "ENSP00000524403.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 958,
"cds_start": 853,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854344.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000970349.1",
"protein_id": "ENSP00000640408.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 925,
"cds_start": 853,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970349.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "ENST00000854343.1",
"protein_id": "ENSP00000524402.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 915,
"cds_start": 853,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854343.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Cys",
"transcript": "NM_001306212.2",
"protein_id": "NP_001293141.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 870,
"cds_start": 580,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306212.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Cys",
"transcript": "NM_001306213.2",
"protein_id": "NP_001293142.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 870,
"cds_start": 580,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306213.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Cys",
"transcript": "NM_001306214.2",
"protein_id": "NP_001293143.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 870,
"cds_start": 580,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306214.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Cys",
"transcript": "ENST00000511733.1",
"protein_id": "ENSP00000422298.1",
"transcript_support_level": 2,
"aa_start": 194,
"aa_end": null,
"aa_length": 870,
"cds_start": 580,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511733.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "XM_017009799.3",
"protein_id": "XP_016865288.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 656,
"cds_start": 853,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009799.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys",
"transcript": "XM_047417678.1",
"protein_id": "XP_047273634.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 637,
"cds_start": 853,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417678.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"hgvs_c": "n.1043C>T",
"hgvs_p": null,
"transcript": "XR_007058633.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007058633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "THBS4-AS1",
"gene_hgnc_id": 40583,
"hgvs_c": "n.429-6870G>A",
"hgvs_p": null,
"transcript": "ENST00000503007.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503007.5"
}
],
"gene_symbol": "THBS4",
"gene_hgnc_id": 11788,
"dbsnp": "rs138755222",
"frequency_reference_population": 0.000063194755,
"hom_count_reference_population": 0,
"allele_count_reference_population": 102,
"gnomad_exomes_af": 0.0000595124,
"gnomad_genomes_af": 0.0000985688,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18400919437408447,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.2289,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.686,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003248.6",
"gene_symbol": "THBS4",
"hgnc_id": 11788,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000503007.5",
"gene_symbol": "THBS4-AS1",
"hgnc_id": 40583,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.429-6870G>A",
"hgvs_p": null
}
],
"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
}