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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: 6-6435212-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=6435212&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 6435212,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000429345.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.436+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000429345.5",
"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": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429345.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.639+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000435641.5",
"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": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435641.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.306+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000447858.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 938,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000447858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.622+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000655679.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000655679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.671+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000658580.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.391+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000665459.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000665459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.1266+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000669477.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000669477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.369+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000753058.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2442,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.411+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000753059.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.465+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000753060.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000753060.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.382+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000753061.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000753061.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "LY86-AS1",
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"hgvs_c": "n.214-66057A>G",
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"transcript": "ENST00000753062.1",
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"mane_select": null,
"mane_plus": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "LY86-AS1",
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"hgvs_c": "n.286-66057A>G",
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"transcript": "ENST00000753063.1",
"protein_id": null,
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"cds_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
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"gene_symbol": "LY86-AS1",
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"hgvs_c": "n.514+3364A>G",
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},
{
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],
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"hgvs_c": "n.208-66057A>G",
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"transcript": "ENST00000753065.1",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000753065.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "LY86-AS1",
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"hgvs_c": "n.270-66057A>G",
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"transcript": "ENST00000753066.1",
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},
{
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],
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"gene_symbol": "LY86-AS1",
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"hgvs_c": "n.600+3364A>G",
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"transcript": "ENST00000753067.1",
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"feature": "ENST00000753067.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.247+3364A>G",
"hgvs_p": null,
"transcript": "ENST00000753068.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "LY86-AS1",
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"hgvs_c": "n.655+3364A>G",
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},
{
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],
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"gene_symbol": "LY86-AS1",
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},
{
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],
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"gene_symbol": "LY86-AS1",
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"feature": "ENST00000753071.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.447+3364A>G",
"hgvs_p": null,
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"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000753072.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LY86-AS1",
"gene_hgnc_id": 26593,
"hgvs_c": "n.273+3364A>G",
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"transcript": "ENST00000753073.1",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 8,
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"transcript": "NR_026970.1",
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2023,
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"biotype": "pseudogene",
"feature": "NR_026970.1"
}
],
"gene_symbol": "LY86-AS1",
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"dbsnp": "rs6933874",
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"hom_count_reference_population": 453,
"allele_count_reference_population": 8723,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0573338,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 8723,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 453,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.942,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000429345.5",
"gene_symbol": "LY86-AS1",
"hgnc_id": 26593,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.436+3364A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}