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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: 4-8447265-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=8447265&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 8447265,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_152544.3",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "NM_152544.3",
"protein_id": "NP_689757.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": "ENST00000389737.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152544.3"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "ENST00000389737.5",
"protein_id": "ENSP00000374387.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": "NM_152544.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389737.5"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.40+675G>A",
"hgvs_p": null,
"transcript": "ENST00000513449.6",
"protein_id": "ENSP00000424643.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513449.6"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "ENST00000905717.1",
"protein_id": "ENSP00000575776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": null,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905717.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "ENST00000905716.1",
"protein_id": "ENSP00000575775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": null,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905716.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.40+675G>A",
"hgvs_p": null,
"transcript": "NM_001350233.2",
"protein_id": "NP_001337162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350233.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.479-2433G>A",
"hgvs_p": null,
"transcript": "ENST00000504134.1",
"protein_id": "ENSP00000434207.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504134.1"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "XM_047449678.1",
"protein_id": "XP_047305634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449678.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "XM_011513406.3",
"protein_id": "XP_011511708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513406.3"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "XM_011513407.3",
"protein_id": "XP_011511709.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 713,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513407.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
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"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.734+675G>A",
"hgvs_p": null,
"transcript": "XM_047449679.1",
"protein_id": "XP_047305635.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "TRMT44",
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"hgvs_c": "c.734+675G>A",
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"transcript": "XM_047449680.1",
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},
{
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"strand": true,
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],
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"exon_count": 11,
"intron_rank": 2,
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"gene_symbol": "TRMT44",
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},
{
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],
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},
{
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],
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"gene_symbol": "TRMT44",
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"hgvs_c": "c.734+675G>A",
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"transcript": "XM_047449683.1",
"protein_id": "XP_047305639.1",
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"feature": "XM_047449683.1"
},
{
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],
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"gene_symbol": "TRMT44",
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"hgvs_c": "c.734+675G>A",
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},
{
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],
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"gene_symbol": "TRMT44",
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"hgvs_c": "c.734+675G>A",
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"transcript": "XM_047449685.1",
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},
{
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"consequences": [
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],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "c.47+675G>A",
"hgvs_p": null,
"transcript": "XM_011513408.2",
"protein_id": "XP_011511710.1",
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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.734+675G>A",
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"transcript": "XM_017007811.2",
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"biotype": "protein_coding",
"feature": "XM_017007811.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"hgvs_c": "n.752+675G>A",
"hgvs_p": null,
"transcript": "ENST00000528167.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000528167.1"
}
],
"gene_symbol": "TRMT44",
"gene_hgnc_id": 26653,
"dbsnp": "rs940136",
"frequency_reference_population": 0.70923704,
"hom_count_reference_population": 39113,
"allele_count_reference_population": 107909,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.709237,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 107909,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 39113,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0499999523162842,
"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": -1.05,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.517,
"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": "NM_152544.3",
"gene_symbol": "TRMT44",
"hgnc_id": 26653,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.734+675G>A",
"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
}