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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: 6-32975374-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32975374&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32975374,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_005104.4",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "NM_005104.4",
"protein_id": "NP_005095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": "ENST00000374825.9",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "ENST00000374825.9",
"protein_id": "ENSP00000363958.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": "NM_005104.4",
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "ENST00000395287.5",
"protein_id": "ENSP00000378702.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3467,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.349-10T>C",
"hgvs_p": null,
"transcript": "ENST00000449025.5",
"protein_id": "ENSP00000409613.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3210,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "ENST00000374831.8",
"protein_id": "ENSP00000363964.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4807,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "ENST00000449085.4",
"protein_id": "ENSP00000409145.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4579,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "ENST00000607833.5",
"protein_id": "ENSP00000475691.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2338,
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.426-10T>C",
"hgvs_p": null,
"transcript": "ENST00000482914.5",
"protein_id": "ENSP00000431514.1",
"transcript_support_level": 1,
"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": 4834,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "NM_001199455.1",
"protein_id": "NP_001186384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": -4,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
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"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "NM_001113182.3",
"protein_id": "NP_001106653.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 801,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": 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": 13,
"intron_rank": 3,
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"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "c.334-10T>C",
"hgvs_p": null,
"transcript": "ENST00000678250.1",
"protein_id": "ENSP00000502900.1",
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},
{
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],
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"exon_count": 12,
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"gene_symbol": "BRD2",
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"hgvs_c": "c.193-10T>C",
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"transcript": "NM_001199456.2",
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},
{
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],
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"gene_symbol": "BRD2",
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"transcript": "NM_001291986.2",
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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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"gene_symbol": "BRD2",
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"transcript": "ENST00000464592.6",
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},
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],
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},
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],
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"intron_rank": 3,
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"hgvs_c": "n.334-10T>C",
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"transcript": "ENST00000495733.5",
"protein_id": "ENSP00000436322.1",
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},
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],
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"gene_symbol": "BRD2",
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"hgvs_c": "n.426-10T>C",
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],
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],
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"hgvs_c": "n.426-10T>C",
"hgvs_p": null,
"transcript": "ENST00000679179.1",
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},
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"consequences": [
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],
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "BRD2",
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"hgvs_c": "c.334-10T>C",
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"transcript": "XM_047419223.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "BRD2",
"gene_hgnc_id": 1103,
"dbsnp": "rs635688",
"frequency_reference_population": 0.5918676,
"hom_count_reference_population": 281995,
"allele_count_reference_population": 943817,
"gnomad_exomes_af": 0.587256,
"gnomad_genomes_af": 0.635751,
"gnomad_exomes_ac": 847413,
"gnomad_genomes_ac": 96404,
"gnomad_exomes_homalt": 250639,
"gnomad_genomes_homalt": 31356,
"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": 0.017999999225139618,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.628,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000932462306296783,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005104.4",
"gene_symbol": "BRD2",
"hgnc_id": 1103,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.334-10T>C",
"hgvs_p": null
}
],
"clinvar_disease": "BRD2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "BRD2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}