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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: 18-6868926-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=6868926&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 6868926,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000383472.9",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.811+692T>C",
"hgvs_p": null,
"transcript": "NM_001366230.1",
"protein_id": "NP_001353159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "ENST00000383472.9",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.811+692T>C",
"hgvs_p": null,
"transcript": "ENST00000383472.9",
"protein_id": "ENSP00000372964.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "NM_001366230.1",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.655+692T>C",
"hgvs_p": null,
"transcript": "ENST00000262227.7",
"protein_id": "ENSP00000262227.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5369,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.334+692T>C",
"hgvs_p": null,
"transcript": "ENST00000419673.6",
"protein_id": "ENSP00000392660.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5492,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.280+692T>C",
"hgvs_p": null,
"transcript": "ENST00000532996.5",
"protein_id": "ENSP00000435990.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.811+692T>C",
"hgvs_p": null,
"transcript": "NM_001366231.1",
"protein_id": "NP_001353160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2422,
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.655+692T>C",
"hgvs_p": null,
"transcript": "NM_001410873.1",
"protein_id": "NP_001397802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2555,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.334+692T>C",
"hgvs_p": null,
"transcript": "NM_001010000.3",
"protein_id": "NP_001010000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5482,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.334+692T>C",
"hgvs_p": null,
"transcript": "ENST00000314319.7",
"protein_id": "ENSP00000313506.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5415,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.319+692T>C",
"hgvs_p": null,
"transcript": "ENST00000531294.5",
"protein_id": "ENSP00000437262.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
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"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2171,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "n.*137+692T>C",
"hgvs_p": null,
"transcript": "ENST00000577524.5",
"protein_id": "ENSP00000463672.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 535,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "n.*134+695T>C",
"hgvs_p": null,
"transcript": "ENST00000584287.5",
"protein_id": "ENSP00000464310.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 6,
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"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.865+692T>C",
"hgvs_p": null,
"transcript": "XM_005258146.3",
"protein_id": "XP_005258203.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 6,
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"gene_symbol": "ARHGAP28",
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"hgvs_c": "c.865+692T>C",
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"transcript": "XM_047437794.1",
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},
{
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],
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"gene_symbol": "ARHGAP28",
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"hgvs_c": "c.730+692T>C",
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"transcript": "XM_047437796.1",
"protein_id": "XP_047293752.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
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"gene_symbol": "ARHGAP28",
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"hgvs_c": "c.655+692T>C",
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"transcript": "XM_047437795.1",
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},
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],
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"gene_symbol": "ARHGAP28",
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"hgvs_c": "c.655+692T>C",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.655+692T>C",
"hgvs_p": null,
"transcript": "XM_047437798.1",
"protein_id": "XP_047293754.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ARHGAP28",
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},
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],
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"gene_symbol": "ARHGAP28",
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},
{
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"strand": true,
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],
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"intron_rank": 6,
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"gene_symbol": "ARHGAP28",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"hgvs_c": "c.334+692T>C",
"hgvs_p": null,
"transcript": "XM_047437803.1",
"protein_id": "XP_047293759.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "ARHGAP28",
"gene_hgnc_id": 25509,
"dbsnp": "rs2567261",
"frequency_reference_population": 0.85058033,
"hom_count_reference_population": 55351,
"allele_count_reference_population": 129278,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.85058,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 129278,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 55351,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.172,
"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": "ENST00000383472.9",
"gene_symbol": "ARHGAP28",
"hgnc_id": 25509,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.811+692T>C",
"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
}