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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: 3-49488529-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49488529&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49488529,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_004393.6",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-117+18096G>T",
"hgvs_p": null,
"transcript": "NM_004393.6",
"protein_id": "NP_004384.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "ENST00000308775.7",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-117+18096G>T",
"hgvs_p": null,
"transcript": "ENST00000308775.7",
"protein_id": "ENSP00000312435.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5387,
"mane_select": "NM_004393.6",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-315-169G>T",
"hgvs_p": null,
"transcript": "NM_001165928.4",
"protein_id": "NP_001159400.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5748,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-117+1114G>T",
"hgvs_p": null,
"transcript": "NM_001177634.3",
"protein_id": "NP_001171105.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5691,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-117+11629G>T",
"hgvs_p": null,
"transcript": "NM_001177635.3",
"protein_id": "NP_001171106.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5280,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-236-97G>T",
"hgvs_p": null,
"transcript": "NM_001177636.3",
"protein_id": "NP_001171107.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5669,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-236-97G>T",
"hgvs_p": null,
"transcript": "NM_001177637.3",
"protein_id": "NP_001171108.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
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"cds_length": 2688,
"cdna_start": null,
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"cdna_length": 5507,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-267-4294G>T",
"hgvs_p": null,
"transcript": "NM_001177638.3",
"protein_id": "NP_001171109.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5538,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-117+18255G>T",
"hgvs_p": null,
"transcript": "NM_001177639.3",
"protein_id": "NP_001171110.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
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"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"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": 4,
"intron_rank": 2,
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"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-117+11624G>T",
"hgvs_p": null,
"transcript": "NM_001177640.3",
"protein_id": "NP_001171111.2",
"transcript_support_level": null,
"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": 4,
"intron_rank": 1,
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"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-263-4298G>T",
"hgvs_p": null,
"transcript": "NM_001177641.3",
"protein_id": "NP_001171112.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "DAG1",
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"hgvs_c": "c.-117+19474G>T",
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"transcript": "NM_001177643.3",
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},
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],
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"gene_symbol": "DAG1",
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"hgvs_c": "c.-117+17956G>T",
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},
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],
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},
{
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "DAG1",
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"hgvs_c": "c.-387-97G>T",
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},
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],
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"gene_symbol": "DAG1",
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"hgvs_c": "c.-387-97G>T",
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"transcript": "NM_001438882.1",
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},
{
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],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "DAG1",
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"hgvs_c": "c.-117+11624G>T",
"hgvs_p": null,
"transcript": "NM_001438883.1",
"protein_id": "NP_001425812.1",
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},
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "DAG1",
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"hgvs_c": "c.-315-169G>T",
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"transcript": "NM_001438884.1",
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},
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],
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},
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],
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"gene_symbol": "DAG1",
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},
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],
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"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"hgvs_c": "c.-387-97G>T",
"hgvs_p": null,
"transcript": "NM_001438887.1",
"protein_id": "NP_001425816.1",
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"feature": null
},
{
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DAG1",
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"hgvs_c": "c.-117+18255G>T",
"hgvs_p": null,
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"protein_id": "NP_001425817.1",
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],
"gene_symbol": "DAG1",
"gene_hgnc_id": 2666,
"dbsnp": "rs4855861",
"frequency_reference_population": 0.41706243,
"hom_count_reference_population": 14890,
"allele_count_reference_population": 63406,
"gnomad_exomes_af": 0.5,
"gnomad_genomes_af": 0.41706,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 63404,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 14890,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.593,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_004393.6",
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-117+18096G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}