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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: 12-85989419-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=85989419&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MGAT4C",
"hgnc_id": 30871,
"hgvs_c": "c.242T>C",
"hgvs_p": "p.Ile81Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001351282.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 582,
"alphamissense_prediction": null,
"alphamissense_score": 0.0733,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1942046880722046,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25268,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351288.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000611864.5",
"protein_coding": true,
"protein_id": "NP_001338217.1",
"strand": false,
"transcript": "NM_001351288.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 25268,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000611864.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001351288.2",
"protein_coding": true,
"protein_id": "ENSP00000481096.1",
"strand": false,
"transcript": "ENST00000611864.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000621808.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478300.1",
"strand": false,
"transcript": "ENST00000621808.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 396,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": 358,
"cds_end": null,
"cds_length": 1193,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000547225.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449172.1",
"strand": false,
"transcript": "ENST00000547225.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 516,
"aa_ref": "I",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25356,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1551,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351282.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.242T>C",
"hgvs_p": "p.Ile81Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338211.1",
"strand": false,
"transcript": "NM_001351282.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 507,
"aa_ref": "I",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25372,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1524,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351283.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Ile72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338212.1",
"strand": false,
"transcript": "NM_001351283.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 507,
"aa_ref": "I",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25369,
"cdna_start": 438,
"cds_end": null,
"cds_length": 1524,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351284.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.215T>C",
"hgvs_p": "p.Ile72Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338213.1",
"strand": false,
"transcript": "NM_001351284.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25720,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001351285.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338214.1",
"strand": false,
"transcript": "NM_001351285.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25655,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351286.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338215.1",
"strand": false,
"transcript": "NM_001351286.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25218,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351287.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338216.1",
"strand": false,
"transcript": "NM_001351287.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25364,
"cdna_start": 433,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351289.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338218.1",
"strand": false,
"transcript": "NM_001351289.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26388,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001351291.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338220.1",
"strand": false,
"transcript": "NM_001351291.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 478,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25622,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_013244.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037376.2",
"strand": false,
"transcript": "NM_013244.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25471,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000548651.6",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447253.1",
"strand": false,
"transcript": "ENST00000548651.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 352,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000552808.7",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446647.1",
"strand": false,
"transcript": "ENST00000552808.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000620241.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477650.1",
"strand": false,
"transcript": "ENST00000620241.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 272,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899085.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569144.1",
"strand": false,
"transcript": "ENST00000899085.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 478,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899086.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569145.1",
"strand": false,
"transcript": "ENST00000899086.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899087.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569146.1",
"strand": false,
"transcript": "ENST00000899087.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 288,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899088.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Ile43Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569147.1",
"strand": false,
"transcript": "ENST00000899088.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 478,
"aa_ref": "I",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1437,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899089.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.128T>C",
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