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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: 10-102382537-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102382537&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102382537,
"ref": "G",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000369983.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.*201G>T",
"hgvs_p": null,
"transcript": "NM_001377137.1",
"protein_id": "NP_001364066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": "ENST00000369983.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.*201G>T",
"hgvs_p": null,
"transcript": "ENST00000369983.5",
"protein_id": "ENSP00000359000.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": -4,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": "NM_001377137.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Arg128Leu",
"transcript": "ENST00000679080.1",
"protein_id": "ENSP00000503258.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 135,
"cds_start": 383,
"cds_end": null,
"cds_length": 408,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.6468G>T",
"hgvs_p": null,
"transcript": "ENST00000676560.1",
"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,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.*5147G>T",
"hgvs_p": null,
"transcript": "ENST00000676682.1",
"protein_id": "ENSP00000503097.1",
"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,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.6764G>T",
"hgvs_p": null,
"transcript": "ENST00000677487.1",
"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,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.6253G>T",
"hgvs_p": null,
"transcript": "ENST00000677506.1",
"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,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.*664G>T",
"hgvs_p": null,
"transcript": "ENST00000677655.1",
"protein_id": "ENSP00000504432.1",
"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,
"cdna_end": null,
"cdna_length": 6329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.2350G>T",
"hgvs_p": null,
"transcript": "ENST00000677811.1",
"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,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.*1283G>T",
"hgvs_p": null,
"transcript": "ENST00000678036.1",
"protein_id": "ENSP00000502947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 6369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.*1283G>T",
"hgvs_p": null,
"transcript": "ENST00000678476.1",
"protein_id": "ENSP00000503655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6381,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.*1044G>T",
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"transcript": "ENST00000678504.1",
"protein_id": "ENSP00000503983.1",
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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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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.4022G>T",
"hgvs_p": null,
"transcript": "ENST00000678585.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.6334G>T",
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"transcript": "ENST00000678666.1",
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},
{
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"strand": true,
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.*4298G>T",
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"transcript": "ENST00000679155.1",
"protein_id": "ENSP00000503529.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.7091G>T",
"hgvs_p": null,
"transcript": "ENST00000679280.1",
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},
{
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"strand": true,
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],
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"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.5722G>T",
"hgvs_p": null,
"transcript": "NR_165085.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.5973G>T",
"hgvs_p": null,
"transcript": "NR_165086.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.5980G>T",
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"transcript": "NR_165087.1",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "GBF1",
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"hgvs_c": "n.5875G>T",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "n.5800G>T",
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"protein_id": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.*201G>T",
"hgvs_p": null,
"transcript": "NM_001411027.1",
"protein_id": "NP_001397956.1",
"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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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"hgvs_c": "c.*201G>T",
"hgvs_p": null,
"transcript": "ENST00000673650.1",
"protein_id": "ENSP00000501233.1",
"transcript_support_level": null,
"aa_start": null,
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},
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"gene_symbol": "GBF1",
"gene_hgnc_id": 4181,
"dbsnp": "rs1057050",
"frequency_reference_population": 0.000013114203,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000131142,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.219,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000369983.5",
"gene_symbol": "GBF1",
"hgnc_id": 4181,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*201G>T",
"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
}