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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: 12-123156306-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123156306&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123156306,
"ref": "C",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000606320.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "NM_022782.4",
"protein_id": "NP_073619.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": "ENST00000606320.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "ENST00000606320.6",
"protein_id": "ENSP00000475489.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6369,
"mane_select": "NM_022782.4",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.553-3681G>C",
"hgvs_p": null,
"transcript": "ENST00000541603.6",
"protein_id": "ENSP00000446362.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "n.4017G>C",
"hgvs_p": null,
"transcript": "NR_103517.2",
"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": 6108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "ENST00000541076.6",
"protein_id": "ENSP00000445859.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": -4,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_017018673.2",
"protein_id": "XP_016874162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428055.1",
"protein_id": "XP_047284011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428056.1",
"protein_id": "XP_047284012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428058.1",
"protein_id": "XP_047284014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428059.1",
"protein_id": "XP_047284015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"cds_start": -4,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428060.1",
"protein_id": "XP_047284016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1141,
"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": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428061.1",
"protein_id": "XP_047284017.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7000,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428063.1",
"protein_id": "XP_047284019.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
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"transcript": "XM_017018677.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428065.1",
"protein_id": "XP_047284021.1",
"transcript_support_level": null,
"aa_start": null,
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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": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428066.1",
"protein_id": "XP_047284022.1",
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428067.1",
"protein_id": "XP_047284023.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428069.1",
"protein_id": "XP_047284025.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.*501G>C",
"hgvs_p": null,
"transcript": "XM_047428070.1",
"protein_id": "XP_047284026.1",
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
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"intron_rank": null,
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"gene_symbol": "MPHOSPH9",
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"hgvs_c": "c.*501G>C",
"hgvs_p": null,
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"protein_id": "XP_047284029.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
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"hgvs_c": "c.3451-1876G>C",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.3451-1876G>C",
"hgvs_p": null,
"transcript": "XM_011537741.3",
"protein_id": "XP_011536043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1151,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "MPHOSPH9",
"gene_hgnc_id": 7215,
"hgvs_c": "c.3325-1876G>C",
"hgvs_p": null,
"transcript": "XM_047428064.1",
"protein_id": "XP_047284020.1",
"transcript_support_level": null,
"aa_start": null,
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{
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],
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"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.9,
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"phylop100way_score": 0.173,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000606320.6",
"gene_symbol": "MPHOSPH9",
"hgnc_id": 7215,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}