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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: 22-38551830-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38551830&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38551830,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000216024.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "NM_007068.4",
"protein_id": "NP_008999.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "ENST00000216024.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "ENST00000216024.7",
"protein_id": "ENSP00000216024.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": "NM_007068.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "NM_001278208.2",
"protein_id": "NP_001265137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "NM_001363017.2",
"protein_id": "NP_001349946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "ENST00000428462.6",
"protein_id": "ENSP00000412703.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": -4,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "ENST00000439567.5",
"protein_id": "ENSP00000391385.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": -4,
"cds_end": null,
"cds_length": 610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "n.596+836G>A",
"hgvs_p": null,
"transcript": "ENST00000478820.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "XM_011529834.3",
"protein_id": "XP_011528136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "XM_011529835.3",
"protein_id": "XP_011528137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "XM_047441075.1",
"protein_id": "XP_047297031.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 362,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.421+836G>A",
"hgvs_p": null,
"transcript": "XM_047441076.1",
"protein_id": "XP_047297032.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 15,
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"gene_symbol": "DMC1",
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"transcript": "XM_047441077.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "DMC1",
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"transcript": "XM_047441078.1",
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},
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"strand": false,
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],
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"intron_rank": 7,
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"gene_symbol": "DMC1",
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"hgvs_c": "c.421+836G>A",
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],
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},
{
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"consequences": [
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],
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"intron_rank": 6,
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"gene_symbol": "DMC1",
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"hgvs_c": "c.379+3527G>A",
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"transcript": "XM_011529838.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "DMC1",
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"hgvs_c": "c.421+836G>A",
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"transcript": "XM_047441081.1",
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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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"intron_rank": 7,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"hgvs_c": "c.379+3527G>A",
"hgvs_p": null,
"transcript": "XM_047441084.1",
"protein_id": "XP_047297040.1",
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"cds_start": -4,
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"cdna_length": 2001,
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"feature": null
}
],
"gene_symbol": "DMC1",
"gene_hgnc_id": 2927,
"dbsnp": "rs5757133",
"frequency_reference_population": 0.2436269,
"hom_count_reference_population": 5066,
"allele_count_reference_population": 36488,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.243627,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 36488,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5066,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.215,
"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": "ENST00000216024.7",
"gene_symbol": "DMC1",
"hgnc_id": 2927,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.421+836G>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
}