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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: 3-33402794-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33402794&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 33402794,
"ref": "T",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000283629.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1031+7A>T",
"hgvs_p": null,
"transcript": "NM_014517.5",
"protein_id": "NP_055332.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": "ENST00000283629.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1031+7A>T",
"hgvs_p": null,
"transcript": "ENST00000283629.8",
"protein_id": "ENSP00000283629.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": "NM_014517.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1031+7A>T",
"hgvs_p": null,
"transcript": "NM_001128161.2",
"protein_id": "NP_001121633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1031+7A>T",
"hgvs_p": null,
"transcript": "ENST00000283628.9",
"protein_id": "ENSP00000283628.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.923+7A>T",
"hgvs_p": null,
"transcript": "NM_001128160.2",
"protein_id": "NP_001121632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.923+7A>T",
"hgvs_p": null,
"transcript": "ENST00000447368.6",
"protein_id": "ENSP00000395558.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.173+7A>T",
"hgvs_p": null,
"transcript": "ENST00000411650.5",
"protein_id": "ENSP00000393842.1",
"transcript_support_level": 5,
"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": 859,
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1215-440T>A",
"hgvs_p": null,
"transcript": "ENST00000463736.5",
"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": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.604+7A>T",
"hgvs_p": null,
"transcript": "ENST00000467613.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.137+7A>T",
"hgvs_p": null,
"transcript": "ENST00000486388.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 928,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1557+17066T>A",
"hgvs_p": null,
"transcript": "NR_146123.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1576-440T>A",
"hgvs_p": null,
"transcript": "NR_146124.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1558-440T>A",
"hgvs_p": null,
"transcript": "NR_146125.2",
"protein_id": null,
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"mane_select": null,
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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": 16,
"intron_rank": 15,
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"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1464-440T>A",
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"transcript": "NR_146127.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
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"intron_rank": 12,
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"gene_symbol": "FBXL2",
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"hgvs_c": "n.1239-440T>A",
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"transcript": "NR_146128.2",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1515-440T>A",
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},
{
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],
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"intron_rank": 15,
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"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1463+17066T>A",
"hgvs_p": null,
"transcript": "NR_146132.2",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "c.1040+7A>T",
"hgvs_p": null,
"transcript": "XM_047448846.1",
"protein_id": "XP_047304802.1",
"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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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "UBP1",
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"hgvs_c": "c.932+7A>T",
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"transcript": "XM_047448847.1",
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},
{
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"intron_variant"
],
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"intron_rank": 9,
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"gene_symbol": "UBP1",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "UBP1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FBXL2",
"gene_hgnc_id": 13598,
"hgvs_c": "n.1557-440T>A",
"hgvs_p": null,
"transcript": "XR_007095659.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UBP1",
"gene_hgnc_id": 12507,
"hgvs_c": "n.1641+7A>T",
"hgvs_p": null,
"transcript": "XR_007095724.1",
"protein_id": null,
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"biotype": null,
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}
],
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"dbsnp": "rs623244",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
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"gnomad_genomes_af": 0.00000658727,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.08,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000476812003752706,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000283629.8",
"gene_symbol": "UBP1",
"hgnc_id": 12507,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1031+7A>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000463736.5",
"gene_symbol": "FBXL2",
"hgnc_id": 13598,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1215-440T>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
}