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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: 2-134410029-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=134410029&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 134410029,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000281923.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "NM_002410.5",
"protein_id": "NP_002401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8332,
"mane_select": "ENST00000281923.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "ENST00000281923.4",
"protein_id": "ENSP00000281923.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8332,
"mane_select": "NM_002410.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "NM_001371457.1",
"protein_id": "NP_001358386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "ENST00000409645.5",
"protein_id": "ENSP00000386377.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "XM_005263669.6",
"protein_id": "XP_005263726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "XM_006712534.4",
"protein_id": "XP_006712597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "XM_011511199.3",
"protein_id": "XP_011509501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "XM_011511201.3",
"protein_id": "XP_011509503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
"hgvs_p": null,
"transcript": "XM_011511202.3",
"protein_id": "XP_011509504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8246,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 13,
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"gene_symbol": "MGAT5",
"gene_hgnc_id": 7049,
"hgvs_c": "c.1531-2840G>A",
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"transcript": "XM_017004147.3",
"protein_id": "XP_016859636.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 12,
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"gene_symbol": "MGAT5",
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"hgvs_c": "c.1531-2840G>A",
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"transcript": "XM_017004148.2",
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},
{
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],
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"gene_symbol": "MGAT5",
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"transcript": "XM_047444394.1",
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},
{
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],
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"gene_symbol": "MGAT5",
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},
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],
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"gene_symbol": "MGAT5",
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"hgvs_c": "c.1531-2840G>A",
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],
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},
{
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],
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"gene_symbol": "MGAT5",
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],
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"gene_symbol": "MGAT5",
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},
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],
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"gene_symbol": "MGAT5",
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"hgvs_c": "c.1531-2840G>A",
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},
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],
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"gene_symbol": "MGAT5",
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"hgvs_c": "c.1531-2840G>A",
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"transcript": "XM_047444404.1",
"protein_id": "XP_047300360.1",
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},
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"consequences": [
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],
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"gene_symbol": "MGAT5",
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"hgvs_c": "c.1531-2840G>A",
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}
],
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"dbsnp": "rs2118844",
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"gnomad_genomes_ac": 38639,
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"gnomad_genomes_homalt": 5674,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.8500000238418579,
"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,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.123,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"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": "ENST00000281923.4",
"gene_symbol": "MGAT5",
"hgnc_id": 7049,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1531-2840G>A",
"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
}