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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: 5-33954406-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=33954406&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 33954406,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000296589.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Ser221Arg",
"transcript": "ENST00000509381.1",
"protein_id": "ENSP00000421100.1",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 243,
"cds_start": 661,
"cds_end": null,
"cds_length": 732,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.987A>C",
"hgvs_p": "p.Thr329Thr",
"transcript": "NM_016180.5",
"protein_id": "NP_057264.4",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 530,
"cds_start": 987,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "ENST00000296589.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.987A>C",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000296589.9",
"protein_id": "ENSP00000296589.4",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 530,
"cds_start": 987,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "NM_016180.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.987A>C",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000382102.7",
"protein_id": "ENSP00000371534.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 460,
"cds_start": 987,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.661A>C",
"hgvs_p": "p.Ser221Arg",
"transcript": "NM_001297417.4",
"protein_id": "NP_001284346.2",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 243,
"cds_start": 661,
"cds_end": null,
"cds_length": 732,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.987A>C",
"hgvs_p": "p.Thr329Thr",
"transcript": "NM_001012509.4",
"protein_id": "NP_001012527.2",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 460,
"cds_start": 987,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.462A>C",
"hgvs_p": "p.Thr154Thr",
"transcript": "ENST00000510600.1",
"protein_id": "ENSP00000424010.1",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 245,
"cds_start": 462,
"cds_end": null,
"cds_length": 738,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"hgvs_c": "c.747A>C",
"hgvs_p": "p.Thr249Thr",
"transcript": "XM_047417259.1",
"protein_id": "XP_047273215.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 450,
"cds_start": 747,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC45A2",
"gene_hgnc_id": 16472,
"dbsnp": "rs2287949",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84117e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06016984581947327,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.1127,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.362,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000296589.9",
"gene_symbol": "SLC45A2",
"hgnc_id": 16472,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.987A>C",
"hgvs_p": "p.Thr329Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}