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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: 13-52397583-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52397583&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52397583,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018676.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_018676.4",
"protein_id": "NP_061146.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 852,
"cds_start": 670,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "ENST00000258613.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018676.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000258613.5",
"protein_id": "ENSP00000258613.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 852,
"cds_start": 670,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "NM_018676.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258613.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000349258.8",
"protein_id": "ENSP00000340650.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 799,
"cds_start": 670,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349258.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000876238.1",
"protein_id": "ENSP00000546297.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 852,
"cds_start": 670,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876238.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000876242.1",
"protein_id": "ENSP00000546301.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 852,
"cds_start": 670,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876242.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_199263.3",
"protein_id": "NP_954872.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 799,
"cds_start": 670,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199263.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000648254.1",
"protein_id": "ENSP00000497520.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 799,
"cds_start": 670,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648254.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000876239.1",
"protein_id": "ENSP00000546298.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 799,
"cds_start": 670,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876239.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000876241.1",
"protein_id": "ENSP00000546300.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 799,
"cds_start": 670,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876241.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.58+4960C>G",
"hgvs_p": null,
"transcript": "ENST00000876240.1",
"protein_id": "ENSP00000546299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.58+4960C>G",
"hgvs_p": null,
"transcript": "ENST00000945424.1",
"protein_id": "ENSP00000615483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945424.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"hgvs_c": "c.58+4960C>G",
"hgvs_p": null,
"transcript": "ENST00000945423.1",
"protein_id": "ENSP00000615482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945423.1"
}
],
"gene_symbol": "THSD1",
"gene_hgnc_id": 17754,
"dbsnp": "rs9536062",
"frequency_reference_population": 0.050593097,
"hom_count_reference_population": 2340,
"allele_count_reference_population": 81661,
"gnomad_exomes_af": 0.0497931,
"gnomad_genomes_af": 0.0582752,
"gnomad_exomes_ac": 72790,
"gnomad_genomes_ac": 8871,
"gnomad_exomes_homalt": 2033,
"gnomad_genomes_homalt": 307,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001481562852859497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.1055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.71,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018676.4",
"gene_symbol": "THSD1",
"hgnc_id": 17754,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly"
}
],
"clinvar_disease": "THSD1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "THSD1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}