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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: 1-175403578-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=175403578&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 175403578,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003285.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Asn180His",
"transcript": "NM_003285.3",
"protein_id": "NP_003276.3",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1358,
"cds_start": 538,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367674.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003285.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Asn180His",
"transcript": "ENST00000367674.7",
"protein_id": "ENSP00000356646.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 1358,
"cds_start": 538,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003285.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367674.7"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Asn180His",
"transcript": "ENST00000713954.1",
"protein_id": "ENSP00000519247.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 1304,
"cds_start": 538,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713954.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "c.-358A>C",
"hgvs_p": null,
"transcript": "NM_001328635.2",
"protein_id": "NP_001315564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": null,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001328635.2"
},
{
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "c.499+2638A>C",
"hgvs_p": null,
"transcript": "ENST00000713977.1",
"protein_id": "ENSP00000519268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1111,
"cds_start": null,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713977.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "c.148+2638A>C",
"hgvs_p": null,
"transcript": "ENST00000422274.2",
"protein_id": "ENSP00000403413.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422274.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "n.538A>C",
"hgvs_p": null,
"transcript": "ENST00000713955.1",
"protein_id": "ENSP00000519248.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000713955.1"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"hgvs_c": "n.499+2638A>C",
"hgvs_p": null,
"transcript": "ENST00000713978.1",
"protein_id": "ENSP00000519269.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000713978.1"
}
],
"gene_symbol": "TNR",
"gene_hgnc_id": 11953,
"dbsnp": "rs61731112",
"frequency_reference_population": 0.0052606994,
"hom_count_reference_population": 38,
"allele_count_reference_population": 8491,
"gnomad_exomes_af": 0.00545293,
"gnomad_genomes_af": 0.00341517,
"gnomad_exomes_ac": 7971,
"gnomad_genomes_ac": 520,
"gnomad_exomes_homalt": 36,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012104988098144531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.1478,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.882,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.1,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003285.3",
"gene_symbol": "TNR",
"hgnc_id": 11953,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.538A>C",
"hgvs_p": "p.Asn180His"
}
],
"clinvar_disease": "Parkinson disease,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:2",
"phenotype_combined": "Parkinson disease|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}