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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: 1-112917404-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=112917404&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 112917404,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000369626.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "NM_003051.4",
"protein_id": "NP_003042.3",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "ENST00000369626.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000369626.8",
"protein_id": "ENSP00000358640.4",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "NM_003051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "NM_001166496.2",
"protein_id": "NP_001159968.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000429288.2",
"protein_id": "ENSP00000397106.2",
"transcript_support_level": 3,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000443580.6",
"protein_id": "ENSP00000399104.2",
"transcript_support_level": 3,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000458229.6",
"protein_id": "ENSP00000416167.2",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000538576.5",
"protein_id": "ENSP00000441065.1",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1834,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "ENST00000679803.1",
"protein_id": "ENSP00000505879.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "XM_047428789.1",
"protein_id": "XP_047284745.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 500,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "n.1919G>A",
"hgvs_p": null,
"transcript": "ENST00000679846.1",
"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": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.563-43073C>T",
"hgvs_p": null,
"transcript": "ENST00000413231.6",
"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": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.531-43073C>T",
"hgvs_p": null,
"transcript": "ENST00000715665.1",
"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": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.193-43073C>T",
"hgvs_p": null,
"transcript": "ENST00000764794.1",
"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": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"dbsnp": "rs114731222",
"frequency_reference_population": 0.0011188842,
"hom_count_reference_population": 20,
"allele_count_reference_population": 1806,
"gnomad_exomes_af": 0.000657374,
"gnomad_genomes_af": 0.00555081,
"gnomad_exomes_ac": 961,
"gnomad_genomes_ac": 845,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.522,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000369626.8",
"gene_symbol": "SLC16A1",
"hgnc_id": 10922,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown,SD",
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ala334Ala"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000413231.6",
"gene_symbol": "SLC16A1-AS1",
"hgnc_id": 49445,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.563-43073C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Exercise-induced hyperinsulinism,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|Exercise-induced hyperinsulinism|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}