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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: 7-43247240-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43247240&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 43247240,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000395891.7",
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.27+3308T>C",
"hgvs_p": null,
"transcript": "NM_015052.5",
"protein_id": "NP_055867.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": "ENST00000395891.7",
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.27+3308T>C",
"hgvs_p": null,
"transcript": "ENST00000395891.7",
"protein_id": "ENSP00000379228.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": "NM_015052.5",
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.27+3308T>C",
"hgvs_p": null,
"transcript": "NM_001287059.2",
"protein_id": "NP_001273988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9116,
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.27+3308T>C",
"hgvs_p": null,
"transcript": "ENST00000453890.5",
"protein_id": "ENSP00000407774.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228680",
"gene_hgnc_id": null,
"hgvs_c": "n.86+1943A>G",
"hgvs_p": null,
"transcript": "ENST00000457315.1",
"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": 355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228680",
"gene_hgnc_id": null,
"hgvs_c": "n.61-1441A>G",
"hgvs_p": null,
"transcript": "ENST00000458590.1",
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228680",
"gene_hgnc_id": null,
"hgvs_c": "n.65+1943A>G",
"hgvs_p": null,
"transcript": "ENST00000458680.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 478,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.310-64523T>C",
"hgvs_p": null,
"transcript": "ENST00000490954.2",
"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": 531,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "n.652-64523T>C",
"hgvs_p": null,
"transcript": "ENST00000492310.5",
"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": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000228680",
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"hgvs_c": "n.149-1441A>G",
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"transcript": "ENST00000801396.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 1,
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"gene_symbol": "HECW1",
"gene_hgnc_id": 22195,
"hgvs_c": "c.124-64523T>C",
"hgvs_p": null,
"transcript": "XM_017011882.2",
"protein_id": "XP_016867371.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "HECW1",
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"transcript": "XM_017011883.3",
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},
{
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],
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"hgvs_c": "c.124-64523T>C",
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},
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],
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],
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},
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],
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},
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],
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"hgvs_c": "c.27+3308T>C",
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},
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"gene_symbol": "HECW1",
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "HECW1",
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}
],
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"hom_count_reference_population": 2673,
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"gnomad_genomes_af": 0.136319,
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"gnomad_genomes_ac": 20747,
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"gnomad_genomes_homalt": 2673,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.132,
"phylop100way_prediction": "Benign",
"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": -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": "ENST00000395891.7",
"gene_symbol": "HECW1",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000457315.1",
"gene_symbol": "ENSG00000228680",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.86+1943A>G",
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},
{
"score": -12,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007060295.1",
"gene_symbol": "LOC124901619",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.117-1441A>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
}