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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: 1-179917990-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179917990&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179917990,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000606911.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.1503G>C",
"hgvs_p": "p.Ala501Ala",
"transcript": "NM_015602.4",
"protein_id": "NP_056417.2",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 583,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": "ENST00000606911.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.1503G>C",
"hgvs_p": "p.Ala501Ala",
"transcript": "ENST00000606911.7",
"protein_id": "ENSP00000476687.1",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 583,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": "NM_015602.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.1140G>C",
"hgvs_p": "p.Ala380Ala",
"transcript": "ENST00000435319.8",
"protein_id": "ENSP00000393292.3",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 462,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.1551G>C",
"hgvs_p": "p.Ala517Ala",
"transcript": "ENST00000271583.7",
"protein_id": "ENSP00000271583.3",
"transcript_support_level": 5,
"aa_start": 517,
"aa_end": null,
"aa_length": 599,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.1506G>C",
"hgvs_p": "p.Ala502Ala",
"transcript": "NM_001267578.2",
"protein_id": "NP_001254507.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 584,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.1506G>C",
"hgvs_p": "p.Ala502Ala",
"transcript": "ENST00000528443.6",
"protein_id": "ENSP00000435365.2",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 584,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Ala235Ala",
"transcript": "ENST00000447964.1",
"protein_id": "ENSP00000393613.1",
"transcript_support_level": 3,
"aa_start": 235,
"aa_end": null,
"aa_length": 294,
"cds_start": 705,
"cds_end": null,
"cds_length": 886,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"dbsnp": "rs627897",
"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": 0.15199999511241913,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.014,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000606911.7",
"gene_symbol": "TOR1AIP1",
"hgnc_id": 29456,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1503G>C",
"hgvs_p": "p.Ala501Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}