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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: 5-110761261-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=110761261&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 110761261,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000355943.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.736A>T",
"hgvs_p": "p.Arg246*",
"transcript": "NM_138773.4",
"protein_id": "NP_620128.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 418,
"cds_start": 736,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "ENST00000355943.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.736A>T",
"hgvs_p": "p.Arg246*",
"transcript": "ENST00000355943.8",
"protein_id": "ENSP00000348211.3",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 418,
"cds_start": 736,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "NM_138773.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.463A>T",
"hgvs_p": "p.Arg155*",
"transcript": "NM_001303250.3",
"protein_id": "NP_001290179.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 327,
"cds_start": 463,
"cds_end": null,
"cds_length": 984,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.298A>T",
"hgvs_p": "p.Arg100*",
"transcript": "ENST00000504098.1",
"protein_id": "ENSP00000425708.1",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 272,
"cds_start": 298,
"cds_end": null,
"cds_length": 819,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.250A>T",
"hgvs_p": "p.Arg84*",
"transcript": "ENST00000513807.5",
"protein_id": "ENSP00000421134.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 256,
"cds_start": 250,
"cds_end": null,
"cds_length": 771,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.97A>T",
"hgvs_p": "p.Arg33*",
"transcript": "ENST00000509432.1",
"protein_id": "ENSP00000426604.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 205,
"cds_start": 97,
"cds_end": null,
"cds_length": 618,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1596,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "n.1052A>T",
"hgvs_p": null,
"transcript": "ENST00000502462.6",
"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": 1446,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "n.2336A>T",
"hgvs_p": null,
"transcript": "ENST00000513706.2",
"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": 6236,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "n.975A>T",
"hgvs_p": null,
"transcript": "NR_138151.2",
"protein_id": null,
"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": 4871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.679-186A>T",
"hgvs_p": null,
"transcript": "NM_001303249.3",
"protein_id": "NP_001290178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.679-186A>T",
"hgvs_p": null,
"transcript": "ENST00000447245.6",
"protein_id": "ENSP00000399717.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"dbsnp": "rs1554093168",
"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": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"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": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.92,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355943.8",
"gene_symbol": "SLC25A46",
"hgnc_id": 25198,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.736A>T",
"hgvs_p": "p.Arg246*"
}
],
"clinvar_disease": " hereditary motor and sensory, type 1E, type 6B,Neuropathy,Pontocerebellar hypoplasia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Neuropathy, hereditary motor and sensory, type 6B|Pontocerebellar hypoplasia, type 1E",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}