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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: 18-75285722-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=75285722&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 75285722,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001308210.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Ser105Ser",
"transcript": "NM_001308210.2",
"protein_id": "NP_001295139.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1077,
"cds_start": 315,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000580243.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308210.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Ser105Ser",
"transcript": "ENST00000580243.3",
"protein_id": "ENSP00000464391.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 1077,
"cds_start": 315,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308210.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580243.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000322038.5",
"protein_id": "ENSP00000323584.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 1032,
"cds_start": 180,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322038.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "NM_005786.6",
"protein_id": "NP_005777.3",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 1032,
"cds_start": 180,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005786.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000560918.2",
"protein_id": "ENSP00000453834.2",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 275,
"cds_start": 180,
"cds_end": null,
"cds_length": 830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560918.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000560661.1",
"protein_id": "ENSP00000452718.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 77,
"cds_start": 180,
"cds_end": null,
"cds_length": 236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"hgvs_c": "n.2859C>T",
"hgvs_p": null,
"transcript": "ENST00000584217.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "retained_intron",
"feature": "ENST00000584217.1"
}
],
"gene_symbol": "TSHZ1",
"gene_hgnc_id": 10669,
"dbsnp": "rs3826609",
"frequency_reference_population": 0.28718475,
"hom_count_reference_population": 69953,
"allele_count_reference_population": 463422,
"gnomad_exomes_af": 0.292534,
"gnomad_genomes_af": 0.235766,
"gnomad_exomes_ac": 427570,
"gnomad_genomes_ac": 35852,
"gnomad_exomes_homalt": 64811,
"gnomad_genomes_homalt": 5142,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.37,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001308210.2",
"gene_symbol": "TSHZ1",
"hgnc_id": 10669,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Ser105Ser"
}
],
"clinvar_disease": "TSHZ1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|TSHZ1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}