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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: 6-142794623-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142794623&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142794623,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000367603.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "NM_006734.4",
"protein_id": "NP_006725.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000367603.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "ENST00000367603.8",
"protein_id": "ENSP00000356575.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_006734.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "NM_001438449.1",
"protein_id": "NP_001425378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "NM_001438450.1",
"protein_id": "NP_001425379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "NM_001438451.1",
"protein_id": "NP_001425380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-432-18432A>G",
"hgvs_p": null,
"transcript": "ENST00000012134.7",
"protein_id": "ENSP00000012134.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9755,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "ENST00000367604.6",
"protein_id": "ENSP00000356576.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 2446,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 10032,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-527-11008A>G",
"hgvs_p": null,
"transcript": "ENST00000703918.1",
"protein_id": "ENSP00000515552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2446,
"cds_start": -4,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HIVEP2",
"gene_hgnc_id": 4921,
"hgvs_c": "c.-625-11008A>G",
"hgvs_p": null,
"transcript": "ENST00000474532.2",
"protein_id": "ENSP00000515553.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1410,
"cds_start": -4,
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"cds_length": 4233,
"cdna_start": null,
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"cdna_length": 4971,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "HIVEP2",
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"hgvs_c": "c.-95-11008A>G",
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"transcript": "ENST00000703916.1",
"protein_id": "ENSP00000515550.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "HIVEP2",
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"hgvs_c": "c.-140-11008A>G",
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"transcript": "ENST00000703917.1",
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},
{
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],
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},
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],
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"gene_symbol": "HIVEP2",
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},
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],
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"gene_symbol": "HIVEP2",
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},
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],
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},
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],
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"gene_symbol": "HIVEP2",
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},
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],
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"gene_symbol": "HIVEP2",
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"hgvs_c": "c.-527-11008A>G",
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},
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],
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"gene_symbol": "HIVEP2",
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"hgvs_c": "c.-527-11008A>G",
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},
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],
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"hgvs_c": "c.-527-11008A>G",
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}
],
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"gnomad_genomes_ac": 88345,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.973,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367603.8",
"gene_symbol": "HIVEP2",
"hgnc_id": 4921,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-527-11008A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}