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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: 12-70554290-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=70554290&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 70554290,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000334414.11",
"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": 34,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.5143+870A>C",
"hgvs_p": null,
"transcript": "NM_001109754.4",
"protein_id": "NP_001103224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2215,
"cds_start": -4,
"cds_end": null,
"cds_length": 6648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12301,
"mane_select": "ENST00000334414.11",
"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": 34,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.5143+870A>C",
"hgvs_p": null,
"transcript": "ENST00000334414.11",
"protein_id": "ENSP00000334928.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2215,
"cds_start": -4,
"cds_end": null,
"cds_length": 6648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12301,
"mane_select": "NM_001109754.4",
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4489+870A>C",
"hgvs_p": null,
"transcript": "ENST00000261266.9",
"protein_id": "ENSP00000261266.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1997,
"cds_start": -4,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6110,
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4219+870A>C",
"hgvs_p": null,
"transcript": "ENST00000538708.5",
"protein_id": "ENSP00000438927.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5839,
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4219+870A>C",
"hgvs_p": null,
"transcript": "ENST00000550857.5",
"protein_id": "ENSP00000447302.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5839,
"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": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4879+870A>C",
"hgvs_p": null,
"transcript": "NM_001330204.2",
"protein_id": "NP_001317133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2127,
"cds_start": -4,
"cds_end": null,
"cds_length": 6384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12037,
"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": 33,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4879+870A>C",
"hgvs_p": null,
"transcript": "ENST00000550358.5",
"protein_id": "ENSP00000448058.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2127,
"cds_start": -4,
"cds_end": null,
"cds_length": 6384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6583,
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4489+870A>C",
"hgvs_p": null,
"transcript": "NM_002837.6",
"protein_id": "NP_002828.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1997,
"cds_start": -4,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11823,
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4219+870A>C",
"hgvs_p": null,
"transcript": "NM_001206971.3",
"protein_id": "NP_001193900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11553,
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"hgvs_c": "c.4219+870A>C",
"hgvs_p": null,
"transcript": "NM_001206972.3",
"protein_id": "NP_001193901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299164",
"gene_hgnc_id": null,
"hgvs_c": "n.127-3690T>G",
"hgvs_p": null,
"transcript": "ENST00000761347.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "ENSG00000299164",
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"transcript": "ENST00000761349.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "ENSG00000299164",
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"hgvs_c": "n.127-3690T>G",
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000299164",
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"hgvs_c": "n.212-3690T>G",
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"transcript": "ENST00000761352.1",
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},
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],
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 19,
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"gene_symbol": "PTPRB",
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"hgvs_c": "c.4879+870A>C",
"hgvs_p": null,
"transcript": "XM_011538614.2",
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},
{
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 18,
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"gene_symbol": "PTPRB",
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"transcript": "XM_006719529.5",
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},
{
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],
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"gene_symbol": "PTPRB",
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},
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PTPRB-AS1",
"gene_hgnc_id": 58150,
"hgvs_c": "n.10007-3690T>G",
"hgvs_p": null,
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"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRB-AS1",
"gene_hgnc_id": 58150,
"hgvs_c": "n.127-3690T>G",
"hgvs_p": null,
"transcript": "XR_945075.4",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTPRB",
"gene_hgnc_id": 9665,
"dbsnp": "rs2567133",
"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": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.354,
"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": -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": "ENST00000334414.11",
"gene_symbol": "PTPRB",
"hgnc_id": 9665,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5143+870A>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000761347.1",
"gene_symbol": "ENSG00000299164",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127-3690T>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_945075.4",
"gene_symbol": "PTPRB-AS1",
"hgnc_id": 58150,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127-3690T>G",
"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
}