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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: 19-6158481-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6158481&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6158481,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000588485.6",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "NM_030924.5",
"protein_id": "NP_112186.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": "ENST00000588485.6",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "ENST00000588485.6",
"protein_id": "ENSP00000466336.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": "NM_030924.5",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "ENST00000591403.5",
"protein_id": "ENSP00000467755.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2690,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.357+1930T>C",
"hgvs_p": null,
"transcript": "ENST00000588304.5",
"protein_id": "ENSP00000464938.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2759,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "NM_001289177.2",
"protein_id": "NP_001276106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2743,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "NM_001289178.2",
"protein_id": "NP_001276107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2689,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "ENST00000586696.5",
"protein_id": "ENSP00000465589.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
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"cds_length": 2001,
"cdna_start": null,
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"cdna_length": 2739,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "NM_001289179.2",
"protein_id": "NP_001276108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2650,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "ENST00000681525.1",
"protein_id": "ENSP00000506442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
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"cdna_length": 2596,
"mane_select": null,
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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": 15,
"intron_rank": 5,
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"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.357+1930T>C",
"hgvs_p": null,
"transcript": "NM_001321384.2",
"protein_id": "NP_001308313.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"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": 15,
"intron_rank": 5,
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"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.-54-2734T>C",
"hgvs_p": null,
"transcript": "NM_001289180.2",
"protein_id": "NP_001276109.1",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "RFX2",
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"hgvs_c": "c.-107-10152A>G",
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"transcript": "ENST00000592883.5",
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},
{
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],
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"gene_symbol": "ACSBG2",
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"hgvs_c": "n.102+1930T>C",
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"transcript": "ENST00000587227.1",
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},
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],
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"gene_symbol": "ACSBG2",
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"hgvs_c": "n.387-2734T>C",
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"transcript": "ENST00000587617.1",
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},
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],
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},
{
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],
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"gene_symbol": "ACSBG2",
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},
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],
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"gene_symbol": "ACSBG2",
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"hgvs_c": "c.507+1930T>C",
"hgvs_p": null,
"transcript": "XM_017027332.3",
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],
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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": 10,
"intron_rank": 1,
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"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"hgvs_c": "c.-55+1850T>C",
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"transcript": "XM_047439478.1",
"protein_id": "XP_047295434.1",
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"feature": null
}
],
"gene_symbol": "ACSBG2",
"gene_hgnc_id": 24174,
"dbsnp": "rs9304930",
"frequency_reference_population": 0.114387855,
"hom_count_reference_population": 1985,
"allele_count_reference_population": 17214,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.114388,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 17214,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1985,
"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": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.141,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "ENST00000588485.6",
"gene_symbol": "ACSBG2",
"hgnc_id": 24174,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.507+1930T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000592883.5",
"gene_symbol": "RFX2",
"hgnc_id": 9983,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-107-10152A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_187772.1",
"gene_symbol": "LOC105372255",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.218-10152A>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
}