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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: 12-6944654-TGGGTCAGACGCGGGAAGGC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6944654&ref=TGGGTCAGACGCGGGAAGGC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6944654,
"ref": "TGGGTCAGACGCGGGAAGGC",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000229281.6",
"consequences": [
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.229+25_229+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "NM_138425.4",
"protein_id": "NP_612434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": "ENST00000229281.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.229+25_229+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "ENST00000229281.6",
"protein_id": "ENSP00000229281.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": "NM_138425.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VRRGKAG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.254_272delTCAGACGCGGGAAGGCGGG",
"hgvs_p": "p.Val85fs",
"transcript": "ENST00000544681.1",
"protein_id": "ENSP00000475422.1",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 103,
"cds_start": 254,
"cds_end": null,
"cds_length": 312,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 980,
"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": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "n.590_608delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "ENST00000538392.1",
"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": 979,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272173",
"gene_hgnc_id": null,
"hgvs_c": "n.51_69delGCCTTCCCGCGTCTGACCC",
"hgvs_p": null,
"transcript": "ENST00000607421.3",
"protein_id": null,
"transcript_support_level": 6,
"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": 1221,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.229+25_229+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "NM_001301834.1",
"protein_id": "NP_001288763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": -4,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 638,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.229+25_229+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "ENST00000545581.5",
"protein_id": "ENSP00000440602.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.190+25_190+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "NM_001301836.2",
"protein_id": "NP_001288765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 639,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.142+112_142+130delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "NM_001301837.2",
"protein_id": "NP_001288766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": -4,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 474,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.142+112_142+130delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "ENST00000537087.5",
"protein_id": "ENSP00000440937.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": -4,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.124+25_124+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "NM_001301838.2",
"protein_id": "NP_001288767.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 657,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "c.124+25_124+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "ENST00000540506.2",
"protein_id": "ENSP00000475635.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": -4,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "n.407+25_407+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "ENST00000542222.1",
"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": 640,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"hgvs_c": "n.338+112_338+130delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null,
"transcript": "NR_126035.2",
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C12orf57",
"gene_hgnc_id": 29521,
"dbsnp": "rs199730337",
"frequency_reference_population": 0.014374847,
"hom_count_reference_population": 1090,
"allele_count_reference_population": 23150,
"gnomad_exomes_af": 0.0111509,
"gnomad_genomes_af": 0.045289,
"gnomad_exomes_ac": 16262,
"gnomad_genomes_ac": 6888,
"gnomad_exomes_homalt": 704,
"gnomad_genomes_homalt": 386,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.054,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000229281.6",
"gene_symbol": "C12orf57",
"hgnc_id": 29521,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.229+25_229+43delTCAGACGCGGGAAGGCGGG",
"hgvs_p": null
},
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000607421.3",
"gene_symbol": "ENSG00000272173",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.51_69delGCCTTCCCGCGTCTGACCC",
"hgvs_p": null
}
],
"clinvar_disease": "Temtamy syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|Temtamy syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}