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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: 17-2298021-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2298021&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2298021,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000263073.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "NM_017575.5",
"protein_id": "NP_060045.4",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1419,
"cds_start": 1882,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "ENST00000263073.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "ENST00000263073.11",
"protein_id": "ENSP00000263073.5",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 1419,
"cds_start": 1882,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": "NM_017575.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1789C>G",
"hgvs_p": "p.Leu597Val",
"transcript": "XM_005256569.5",
"protein_id": "XP_005256626.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1388,
"cds_start": 1789,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1789C>G",
"hgvs_p": "p.Leu597Val",
"transcript": "XM_011523769.3",
"protein_id": "XP_011522071.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1388,
"cds_start": 1789,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1789C>G",
"hgvs_p": "p.Leu597Val",
"transcript": "XM_047435696.1",
"protein_id": "XP_047291652.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1388,
"cds_start": 1789,
"cds_end": null,
"cds_length": 4167,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 5968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "XM_047435697.1",
"protein_id": "XP_047291653.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1882,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 3443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "XM_011523772.3",
"protein_id": "XP_011522074.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 961,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "XM_017024398.2",
"protein_id": "XP_016879887.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 944,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "XM_047435698.1",
"protein_id": "XP_047291654.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 918,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "XM_005256570.4",
"protein_id": "XP_005256627.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 899,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val",
"transcript": "XM_011523774.3",
"protein_id": "XP_011522076.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 897,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"dbsnp": "rs748444794",
"frequency_reference_population": 0.0000031013599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273959,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6827662587165833,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.2825,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.444,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263073.11",
"gene_symbol": "SMG6",
"hgnc_id": 17809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1882C>G",
"hgvs_p": "p.Leu628Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}