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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: 12-86052783-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=86052783&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 86052783,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000611864.5",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-56-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351288.2",
"protein_id": "NP_001338217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25268,
"mane_select": "ENST00000611864.5",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-56-3060C>T",
"hgvs_p": null,
"transcript": "ENST00000611864.5",
"protein_id": "ENSP00000481096.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25268,
"mane_select": "NM_001351288.2",
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-176-3060C>T",
"hgvs_p": null,
"transcript": "ENST00000621808.5",
"protein_id": "ENSP00000478300.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-152-3060C>T",
"hgvs_p": null,
"transcript": "ENST00000547225.5",
"protein_id": "ENSP00000449172.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1423,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-30-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351282.2",
"protein_id": "NP_001338211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25356,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-73-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351283.2",
"protein_id": "NP_001338212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25372,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-70-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351284.2",
"protein_id": "NP_001338213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
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"cds_length": 1524,
"cdna_start": null,
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"cdna_length": 25369,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-56-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351285.2",
"protein_id": "NP_001338214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 25720,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-56-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351286.2",
"protein_id": "NP_001338215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
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"cdna_length": 25655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-56-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351287.2",
"protein_id": "NP_001338216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"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": 6,
"intron_rank": 1,
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"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"hgvs_c": "c.-152-3060C>T",
"hgvs_p": null,
"transcript": "NM_001351289.2",
"protein_id": "NP_001338218.1",
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},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"gene_symbol": "MGAT4C",
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"transcript": "NM_001351291.2",
"protein_id": "NP_001338220.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "MGAT4C",
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"hgvs_c": "c.-56-3060C>T",
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"transcript": "NM_013244.5",
"protein_id": "NP_037376.2",
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},
{
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"intron_variant"
],
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"gene_symbol": "MGAT4C",
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"hgvs_c": "c.-56-3060C>T",
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"transcript": "ENST00000548651.6",
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},
{
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"intron_variant"
],
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"gene_symbol": "MGAT4C",
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"transcript": "ENST00000552808.7",
"protein_id": "ENSP00000446647.1",
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},
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"intron_variant"
],
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],
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"gene_symbol": "MGAT4C",
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"transcript": "ENST00000552435.6",
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},
{
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "MGAT4C",
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"hgvs_c": "n.177-3060C>T",
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"transcript": "ENST00000550365.1",
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],
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],
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},
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],
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"gene_symbol": "MGAT4C",
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"hgvs_c": "n.154-3060C>T",
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"transcript": "NR_147093.3",
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}
],
"gene_symbol": "MGAT4C",
"gene_hgnc_id": 30871,
"dbsnp": "rs7979846",
"frequency_reference_population": 0.23049706,
"hom_count_reference_population": 4939,
"allele_count_reference_population": 34983,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.230497,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 34983,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 4939,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.19,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000611864.5",
"gene_symbol": "MGAT4C",
"hgnc_id": 30871,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-56-3060C>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
}