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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: 6-134170393-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=134170393&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 134170393,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001143676.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln",
"transcript": "NM_001143676.3",
"protein_id": "NP_001137148.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 526,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367858.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143676.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln",
"transcript": "ENST00000367858.10",
"protein_id": "ENSP00000356832.5",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 526,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143676.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367858.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1255G>C",
"hgvs_p": "p.Glu419Gln",
"transcript": "ENST00000528577.5",
"protein_id": "ENSP00000434450.1",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 459,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528577.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Glu405Gln",
"transcript": "ENST00000413996.7",
"protein_id": "ENSP00000396242.3",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 445,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413996.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1171G>C",
"hgvs_p": "p.Glu391Gln",
"transcript": "ENST00000237305.12",
"protein_id": "ENSP00000237305.7",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 431,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237305.12"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1141G>C",
"hgvs_p": "p.Glu381Gln",
"transcript": "ENST00000367857.9",
"protein_id": "ENSP00000356831.5",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 421,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367857.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1255G>C",
"hgvs_p": "p.Glu419Gln",
"transcript": "NM_001143677.2",
"protein_id": "NP_001137149.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 459,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143677.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Glu414Gln",
"transcript": "ENST00000944482.1",
"protein_id": "ENSP00000614541.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 454,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944482.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1213G>C",
"hgvs_p": "p.Glu405Gln",
"transcript": "NM_001143678.2",
"protein_id": "NP_001137150.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 445,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143678.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1171G>C",
"hgvs_p": "p.Glu391Gln",
"transcript": "NM_005627.4",
"protein_id": "NP_005618.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 431,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005627.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1039G>C",
"hgvs_p": "p.Glu347Gln",
"transcript": "NM_001291995.2",
"protein_id": "NP_001278924.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 387,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291995.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1039G>C",
"hgvs_p": "p.Glu347Gln",
"transcript": "ENST00000475719.6",
"protein_id": "ENSP00000434302.1",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 387,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475719.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.1313G>C",
"hgvs_p": null,
"transcript": "ENST00000367855.7",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000367855.7"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.4329G>C",
"hgvs_p": null,
"transcript": "ENST00000474427.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000474427.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.755G>C",
"hgvs_p": null,
"transcript": "ENST00000477460.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000477460.6"
}
],
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"dbsnp": "rs754853241",
"frequency_reference_population": 6.8414425e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84144e-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": 0.16013112664222717,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.1184,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.868,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001143676.3",
"gene_symbol": "SGK1",
"hgnc_id": 10810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}