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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: 12-48081070-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48081070&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48081070,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001267594.2",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null,
"transcript": "NM_001267594.2",
"protein_id": "NP_001254523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "ENST00000549518.6",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null,
"transcript": "ENST00000549518.6",
"protein_id": "ENSP00000447328.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "NM_001267594.2",
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null,
"transcript": "ENST00000448372.6",
"protein_id": "ENSP00000394791.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8089,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.*290+2521T>G",
"hgvs_p": null,
"transcript": "ENST00000552189.5",
"protein_id": "ENSP00000447593.1",
"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": 4967,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null,
"transcript": "NM_001267595.2",
"protein_id": "NP_001254524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": -4,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4803,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null,
"transcript": "ENST00000549595.5",
"protein_id": "ENSP00000450076.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1932,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.549-570T>G",
"hgvs_p": null,
"transcript": "ENST00000547886.5",
"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": 965,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.459-570T>G",
"hgvs_p": null,
"transcript": "ENST00000551592.5",
"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": 866,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.1318+2521T>G",
"hgvs_p": null,
"transcript": "NR_051991.1",
"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": 5125,
"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": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.1194+2521T>G",
"hgvs_p": null,
"transcript": "NR_051992.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.741+2521T>G",
"hgvs_p": null,
"transcript": "XM_017019229.3",
"protein_id": "XP_016874718.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 707,
"cds_start": -4,
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"cds_length": 2124,
"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 7,
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"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.741+2521T>G",
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"transcript": "XM_017019230.3",
"protein_id": "XP_016874719.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
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"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.648+2521T>G",
"hgvs_p": null,
"transcript": "XM_006719361.4",
"protein_id": "XP_006719424.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 7,
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"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.645+2521T>G",
"hgvs_p": null,
"transcript": "XM_017019231.3",
"protein_id": "XP_016874720.1",
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},
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],
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"gene_symbol": "SENP1",
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"hgvs_c": "c.645+2521T>G",
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"transcript": "XM_017019232.2",
"protein_id": "XP_016874721.1",
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},
{
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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": "SENP1",
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"hgvs_c": "c.648+2521T>G",
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"transcript": "XM_011538244.4",
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},
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],
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"gene_symbol": "SENP1",
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"hgvs_c": "c.600+2521T>G",
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"transcript": "XM_011538245.4",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.600+2521T>G",
"hgvs_p": null,
"transcript": "XM_047428752.1",
"protein_id": "XP_047284708.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
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"gene_symbol": "SENP1",
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"hgvs_c": "c.531+2521T>G",
"hgvs_p": null,
"transcript": "XM_017019233.3",
"protein_id": "XP_016874722.1",
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},
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],
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"gene_symbol": "SENP1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SENP1",
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"hgvs_c": "c.531+2521T>G",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null,
"transcript": "XM_017019237.2",
"protein_id": "XP_016874726.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU6-1203P",
"gene_hgnc_id": 48166,
"hgvs_c": "n.-249A>C",
"hgvs_p": null,
"transcript": "ENST00000410703.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
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"feature": null
}
],
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"dbsnp": "rs10492081",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.095,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001267594.2",
"gene_symbol": "SENP1",
"hgnc_id": 17927,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.552+2521T>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000410703.1",
"gene_symbol": "RNU6-1203P",
"hgnc_id": 48166,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-249A>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
}