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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: 12-86016626-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=86016626&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MGAT4C",
"hgnc_id": 30871,
"hgvs_c": "c.21-15045C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001351282.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000257897",
"hgnc_id": null,
"hgvs_c": "n.*185G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000548429.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 67778,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.96,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9599999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25268,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351288.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 25268,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000611864.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621808.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-7+11462C>T",
"hgvs_p": null,
"intron_rank": 6,
"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": null,
"aa_end": null,
"aa_length": 396,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": null,
"cds_end": null,
"cds_length": 1193,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000547225.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-7+5823C>T",
"hgvs_p": null,
"intron_rank": 3,
"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": null,
"aa_end": null,
"aa_length": 516,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25356,
"cdna_start": null,
"cds_end": null,
"cds_length": 1551,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351282.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.21-15045C>T",
"hgvs_p": null,
"intron_rank": 2,
"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": null,
"aa_end": null,
"aa_length": 507,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25372,
"cdna_start": null,
"cds_end": null,
"cds_length": 1524,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351283.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.81+11478C>T",
"hgvs_p": null,
"intron_rank": 3,
"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": null,
"aa_end": null,
"aa_length": 507,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25369,
"cdna_start": null,
"cds_end": null,
"cds_length": 1524,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351284.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.81+11478C>T",
"hgvs_p": null,
"intron_rank": 3,
"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": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25720,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351285.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
"intron_rank": 6,
"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
},
{
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"aa_length": 478,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25655,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351286.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
"intron_rank": 5,
"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
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 25218,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351287.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338216.1",
"strand": false,
"transcript": "NM_001351287.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001351289.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-7+5823C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338218.1",
"strand": false,
"transcript": "NM_001351289.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "NM_001351291.2",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-1126-2868C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338220.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "NM_013244.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037376.2",
"strand": false,
"transcript": "NM_013244.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000548651.6",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-6-27074C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000447253.1",
"strand": false,
"transcript": "ENST00000548651.6",
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},
{
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000552808.7",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-7+11478C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000446647.1",
"strand": false,
"transcript": "ENST00000552808.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000620241.5",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-1126-2868C>T",
"hgvs_p": null,
"intron_rank": 2,
"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
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000899085.1",
"gene_hgnc_id": 30871,
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"hgvs_c": "c.-94-15045C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569144.1",
"strand": false,
"transcript": "ENST00000899085.1",
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},
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],
"exon_count": 6,
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"feature": "ENST00000899086.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-197-4724C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569145.1",
"strand": false,
"transcript": "ENST00000899086.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000899087.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-991-14148C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000569146.1",
"strand": false,
"transcript": "ENST00000899087.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899088.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
"hgvs_c": "c.-7+11478C>T",
"hgvs_p": null,
"intron_rank": 2,
"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
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929698.1",
"gene_hgnc_id": 30871,
"gene_symbol": "MGAT4C",
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