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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: 13-32487100-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32487100&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32487100,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001320836.3",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1697+30757T>C",
"hgvs_p": null,
"transcript": "NM_001320836.3",
"protein_id": "NP_001307765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4233,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1697+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387001.1",
"protein_id": "NP_001373930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4073,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1697+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387002.1",
"protein_id": "NP_001373931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": -4,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4168,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1406+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387004.1",
"protein_id": "NP_001373933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3942,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1406+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387017.1",
"protein_id": "NP_001373946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3877,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1260-42974T>C",
"hgvs_p": null,
"transcript": "NM_001387005.1",
"protein_id": "NP_001373934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3730,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1260-42974T>C",
"hgvs_p": null,
"transcript": "NM_001387006.1",
"protein_id": "NP_001373935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.1697+30757T>C",
"hgvs_p": null,
"transcript": "ENST00000674422.1",
"protein_id": "ENSP00000501390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2873,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.458+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387008.1",
"protein_id": "NP_001373937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.458+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387009.1",
"protein_id": "NP_001373938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
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"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.410+30757T>C",
"hgvs_p": null,
"transcript": "NM_033111.5",
"protein_id": "NP_149102.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.410+30757T>C",
"hgvs_p": null,
"transcript": "ENST00000399396.7",
"protein_id": "ENSP00000382328.3",
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"aa_start": null,
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"aa_length": 752,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
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"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.365+30757T>C",
"hgvs_p": null,
"transcript": "NM_001278432.2",
"protein_id": "NP_001265361.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.365+30757T>C",
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"transcript": "NM_001387015.1",
"protein_id": "NP_001373944.1",
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},
{
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],
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"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.365+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387018.1",
"protein_id": "NP_001373947.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "N4BP2L2",
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"hgvs_c": "c.365+30757T>C",
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"transcript": "NM_001387019.1",
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},
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],
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"intron_rank": 6,
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"gene_symbol": "N4BP2L2",
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"hgvs_c": "c.365+30757T>C",
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"transcript": "ENST00000357505.10",
"protein_id": "ENSP00000350104.6",
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},
{
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],
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.365+30757T>C",
"hgvs_p": null,
"transcript": "ENST00000504114.5",
"protein_id": "ENSP00000427477.1",
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},
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],
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"gene_symbol": "N4BP2L2",
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"hgvs_c": "c.1697+30757T>C",
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"transcript": "ENST00000505213.5",
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},
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],
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"gene_symbol": "N4BP2L2",
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"transcript": "NM_001387020.1",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "N4BP2L2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.107+30757T>C",
"hgvs_p": null,
"transcript": "NM_001387016.1",
"protein_id": "NP_001373945.1",
"transcript_support_level": null,
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"aa_length": 651,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"hgvs_c": "c.21-42974T>C",
"hgvs_p": null,
"transcript": "ENST00000674456.1",
"protein_id": "ENSP00000501483.1",
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
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"gene_symbol": "N4BP2L2",
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"hgvs_c": "n.1811-6463T>C",
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"transcript": "XR_007063657.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "N4BP2L2",
"gene_hgnc_id": 26916,
"dbsnp": "rs207650",
"frequency_reference_population": 0.38452077,
"hom_count_reference_population": 11372,
"allele_count_reference_population": 58451,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.384521,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 58451,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11372,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.24,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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_001320836.3",
"gene_symbol": "N4BP2L2",
"hgnc_id": 26916,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1697+30757T>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
}