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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: 10-68114130-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68114130&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68114130,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_032578.4",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-2+4407G>C",
"hgvs_p": null,
"transcript": "NM_032578.4",
"protein_id": "NP_115967.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "ENST00000358913.10",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-2+4407G>C",
"hgvs_p": null,
"transcript": "ENST00000358913.10",
"protein_id": "ENSP00000351790.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "NM_032578.4",
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-2+4407G>C",
"hgvs_p": null,
"transcript": "ENST00000613327.5",
"protein_id": "ENSP00000480757.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5392,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.77+7329G>C",
"hgvs_p": null,
"transcript": "ENST00000354393.7",
"protein_id": "ENSP00000346369.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": -4,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4632,
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-2+4407G>C",
"hgvs_p": null,
"transcript": "NM_001256267.2",
"protein_id": "NP_001243196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5822,
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-1187-103G>C",
"hgvs_p": null,
"transcript": "NM_001256268.2",
"protein_id": "NP_001243197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6066,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-2+4407G>C",
"hgvs_p": null,
"transcript": "ENST00000373675.4",
"protein_id": "ENSP00000362779.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2167,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.71+4407G>C",
"hgvs_p": null,
"transcript": "ENST00000685006.1",
"protein_id": "ENSP00000510318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1575,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-1-7308G>C",
"hgvs_p": null,
"transcript": "ENST00000685154.1",
"protein_id": "ENSP00000509251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1556,
"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": 7,
"intron_rank": 1,
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"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-1-7308G>C",
"hgvs_p": null,
"transcript": "ENST00000692979.1",
"protein_id": "ENSP00000509849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"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": 9,
"intron_rank": 1,
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"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-221+7947G>C",
"hgvs_p": null,
"transcript": "ENST00000687572.1",
"protein_id": "ENSP00000510427.1",
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"cds_start": -4,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MYPN",
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"hgvs_c": "c.-221+20872G>C",
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"transcript": "ENST00000689484.1",
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},
{
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],
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"gene_symbol": "MYPN",
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"hgvs_c": "c.-221+26138G>C",
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"transcript": "ENST00000689797.1",
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},
{
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],
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"gene_symbol": "MYPN",
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "MYPN",
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},
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],
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},
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "MYPN",
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"hgvs_c": "n.-2+4407G>C",
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"transcript": "ENST00000688812.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "MYPN",
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"transcript": "ENST00000689218.1",
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],
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "MYPN",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 2,
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"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.439+7329G>C",
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"transcript": "NR_045662.4",
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},
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"protein_coding": false,
"strand": true,
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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": "MYPN",
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}
],
"gene_symbol": "MYPN",
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"dbsnp": "rs114808870",
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"hom_count_reference_population": 3,
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"gnomad_exomes_af": null,
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"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": 0.452,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_prediction": null,
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"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032578.4",
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"effects": [
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"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}