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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: 1-43319285-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43319285&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43319285,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000372476.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Leu991Leu",
"transcript": "NM_005424.5",
"protein_id": "NP_005415.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1138,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3417,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": "ENST00000372476.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Leu991Leu",
"transcript": "ENST00000372476.8",
"protein_id": "ENSP00000361554.3",
"transcript_support_level": 1,
"aa_start": 991,
"aa_end": null,
"aa_length": 1138,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3417,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": "NM_005424.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "c.2838A>G",
"hgvs_p": "p.Leu946Leu",
"transcript": "NM_001253357.2",
"protein_id": "NP_001240286.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "c.2844A>G",
"hgvs_p": "p.Leu948Leu",
"transcript": "XM_005271163.3",
"protein_id": "XP_005271220.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2844,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Leu991Leu",
"transcript": "XM_047429343.1",
"protein_id": "XP_047285299.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 3249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "n.1602A>G",
"hgvs_p": null,
"transcript": "ENST00000473014.1",
"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": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "n.194A>G",
"hgvs_p": null,
"transcript": "ENST00000492599.1",
"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": 391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "n.*2554A>G",
"hgvs_p": null,
"transcript": "ENST00000714825.1",
"protein_id": "ENSP00000520026.1",
"transcript_support_level": null,
"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": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "n.*2554A>G",
"hgvs_p": null,
"transcript": "ENST00000714825.1",
"protein_id": "ENSP00000520026.1",
"transcript_support_level": null,
"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": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"hgvs_c": "n.-178A>G",
"hgvs_p": null,
"transcript": "ENST00000492874.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TIE1",
"gene_hgnc_id": 11809,
"dbsnp": "rs1199039",
"frequency_reference_population": 0.3583176,
"hom_count_reference_population": 107921,
"allele_count_reference_population": 578043,
"gnomad_exomes_af": 0.362892,
"gnomad_genomes_af": 0.314249,
"gnomad_exomes_ac": 530367,
"gnomad_genomes_ac": 47676,
"gnomad_exomes_homalt": 99890,
"gnomad_genomes_homalt": 8031,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.19,
"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,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372476.8",
"gene_symbol": "TIE1",
"hgnc_id": 11809,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Leu991Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}