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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: 10-69293132-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69293132&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69293132,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001322365.2",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "NM_001358263.1",
"protein_id": "NP_001345192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "ENST00000643399.2",
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000643399.2",
"protein_id": "ENSP00000494664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "NM_001358263.1",
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.120+782C>T",
"hgvs_p": null,
"transcript": "ENST00000464803.6",
"protein_id": "ENSP00000496531.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": -4,
"cds_end": null,
"cds_length": 178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.332-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000480047.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 575,
"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": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.120+782C>T",
"hgvs_p": null,
"transcript": "NM_001322365.2",
"protein_id": "NP_001309294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3995,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "NM_001322364.2",
"protein_id": "NP_001309293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3690,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "NM_033497.3",
"protein_id": "NP_277032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "NM_033498.3",
"protein_id": "NP_277033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3866,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000436817.6",
"protein_id": "ENSP00000415949.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3835,
"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": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-114-2501C>T",
"hgvs_p": null,
"transcript": "NM_033500.2",
"protein_id": "NP_277035.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3964,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000703944.1",
"protein_id": "ENSP00000515576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
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"cds_length": 1037,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "HK1",
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"hgvs_c": "c.-114-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000421088.5",
"protein_id": "ENSP00000398316.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.-114-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000483077.5",
"protein_id": "ENSP00000515575.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
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"transcript": "ENST00000483054.5",
"protein_id": "ENSP00000515577.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "HK1",
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"hgvs_c": "c.28-2501C>T",
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"transcript": "ENST00000450646.6",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "HK1",
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"hgvs_c": "c.28-2501C>T",
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"transcript": "ENST00000476368.6",
"protein_id": "ENSP00000495526.1",
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},
{
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],
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"gene_symbol": "HK1",
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"hgvs_c": "n.589-2501C>T",
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"transcript": "ENST00000479594.5",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.424-2501C>T",
"hgvs_p": null,
"transcript": "ENST00000488644.5",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 3,
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"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
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"transcript": "XM_024447969.2",
"protein_id": "XP_024303737.1",
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},
{
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"strand": true,
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],
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"exon_count": 22,
"intron_rank": 4,
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"gene_symbol": "HK1",
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"hgvs_c": "c.28-2501C>T",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.28-2501C>T",
"hgvs_p": null,
"transcript": "XM_047425137.1",
"protein_id": "XP_047281093.1",
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"feature": null
}
],
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"dbsnp": "rs10823333",
"frequency_reference_population": 0.20989756,
"hom_count_reference_population": 3498,
"allele_count_reference_population": 31925,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.209898,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 31925,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3498,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.608,
"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": "NM_001322365.2",
"gene_symbol": "HK1",
"hgnc_id": 4922,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.120+782C>T",
"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
}