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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: 1-3734562-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3734562&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3734562,
"ref": "G",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000378295.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "NM_005427.4",
"protein_id": "NP_005418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": "ENST00000378295.9",
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "ENST00000378295.9",
"protein_id": "ENSP00000367545.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": "NM_005427.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "ENST00000378288.8",
"protein_id": "ENSP00000367537.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "ENST00000713570.1",
"protein_id": "ENSP00000518863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "ENST00000713572.1",
"protein_id": "ENSP00000518864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 636,
"cds_start": -4,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "NM_001126240.3",
"protein_id": "NP_001119712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "NM_001204192.2",
"protein_id": "NP_001191121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "NM_001204187.2",
"protein_id": "NP_001191116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "NM_001204188.2",
"protein_id": "NP_001191117.1",
"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": 4904,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "NM_001204190.2",
"protein_id": "NP_001191119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": -4,
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"cds_length": 1521,
"cdna_start": null,
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"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1800G>T",
"hgvs_p": null,
"transcript": "NM_001204184.2",
"protein_id": "NP_001191113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 10,
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"gene_symbol": "TP73",
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"transcript": "NM_001204191.2",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1817G>T",
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"transcript": "NM_001204185.2",
"protein_id": "NP_001191114.1",
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},
{
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"3_prime_UTR_variant"
],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1800G>T",
"hgvs_p": null,
"transcript": "NM_001126241.3",
"protein_id": "NP_001119713.1",
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},
{
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"protein_coding": true,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1817G>T",
"hgvs_p": null,
"transcript": "NM_001126242.3",
"protein_id": "NP_001119714.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1800G>T",
"hgvs_p": null,
"transcript": "NM_001204186.2",
"protein_id": "NP_001191115.1",
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},
{
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"3_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1800G>T",
"hgvs_p": null,
"transcript": "ENST00000604074.5",
"protein_id": "ENSP00000475143.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1800G>T",
"hgvs_p": null,
"transcript": "NM_001204189.2",
"protein_id": "NP_001191118.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "XM_047429521.1",
"protein_id": "XP_047285477.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"intron_rank": null,
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"gene_symbol": "TP73",
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"hgvs_c": "c.*1483G>T",
"hgvs_p": null,
"transcript": "XM_047429524.1",
"protein_id": "XP_047285480.1",
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}
],
"gene_symbol": "TP73",
"gene_hgnc_id": 12003,
"dbsnp": "rs1181868",
"frequency_reference_population": 0.539151,
"hom_count_reference_population": 26302,
"allele_count_reference_population": 82048,
"gnomad_exomes_af": 0.78125,
"gnomad_genomes_af": 0.538947,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 81948,
"gnomad_exomes_homalt": 39,
"gnomad_genomes_homalt": 26263,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.012,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000378295.9",
"gene_symbol": "TP73",
"hgnc_id": 12003,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1483G>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
}