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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: 6-134172259-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=134172259&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 134172259,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367858.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1005C>G",
"hgvs_p": "p.Asp335Glu",
"transcript": "NM_001143676.3",
"protein_id": "NP_001137148.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 526,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "ENST00000367858.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.1005C>G",
"hgvs_p": "p.Asp335Glu",
"transcript": "ENST00000367858.10",
"protein_id": "ENSP00000356832.5",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 526,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": "NM_001143676.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.804C>G",
"hgvs_p": "p.Asp268Glu",
"transcript": "ENST00000528577.5",
"protein_id": "ENSP00000434450.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 459,
"cds_start": 804,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Asp254Glu",
"transcript": "ENST00000413996.7",
"protein_id": "ENSP00000396242.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 445,
"cds_start": 762,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.720C>G",
"hgvs_p": "p.Asp240Glu",
"transcript": "ENST00000237305.12",
"protein_id": "ENSP00000237305.7",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 431,
"cds_start": 720,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Asp230Glu",
"transcript": "ENST00000367857.9",
"protein_id": "ENSP00000356831.5",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 421,
"cds_start": 690,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.804C>G",
"hgvs_p": "p.Asp268Glu",
"transcript": "NM_001143677.2",
"protein_id": "NP_001137149.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 459,
"cds_start": 804,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.762C>G",
"hgvs_p": "p.Asp254Glu",
"transcript": "NM_001143678.2",
"protein_id": "NP_001137150.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 445,
"cds_start": 762,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.720C>G",
"hgvs_p": "p.Asp240Glu",
"transcript": "NM_005627.4",
"protein_id": "NP_005618.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 431,
"cds_start": 720,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Asp196Glu",
"transcript": "NM_001291995.2",
"protein_id": "NP_001278924.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 387,
"cds_start": 588,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Asp196Glu",
"transcript": "ENST00000475719.6",
"protein_id": "ENSP00000434302.1",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 387,
"cds_start": 588,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1383,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.755C>G",
"hgvs_p": null,
"transcript": "ENST00000367855.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 2422,
"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": 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.2463C>G",
"hgvs_p": null,
"transcript": "ENST00000474427.6",
"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": 5474,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.304C>G",
"hgvs_p": null,
"transcript": "ENST00000477460.6",
"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": 1896,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.642C>G",
"hgvs_p": null,
"transcript": "ENST00000489458.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 790,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.136C>G",
"hgvs_p": null,
"transcript": "ENST00000525877.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 570,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.39C>G",
"hgvs_p": null,
"transcript": "ENST00000531782.1",
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"hgvs_c": "n.-125C>G",
"hgvs_p": null,
"transcript": "ENST00000473704.1",
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SGK1",
"gene_hgnc_id": 10810,
"dbsnp": "rs1057293",
"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": 0.9915682077407837,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.92,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.001,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000367858.10",
"gene_symbol": "SGK1",
"hgnc_id": 10810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1005C>G",
"hgvs_p": "p.Asp335Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}