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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: 14-87988125-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=87988125&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GALC",
"hgnc_id": 4115,
"hgvs_c": "c.328+19T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000153.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 224713,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": "Galactosylceramide beta-galactosidase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 685,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": null,
"cds_end": null,
"cds_length": 2058,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000153.4",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.328+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261304.7",
"protein_coding": true,
"protein_id": "NP_000144.2",
"strand": false,
"transcript": "NM_000153.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 685,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": null,
"cds_end": null,
"cds_length": 2058,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261304.7",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.328+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000153.4",
"protein_coding": true,
"protein_id": "ENSP00000261304.2",
"strand": false,
"transcript": "ENST00000261304.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": null,
"cds_end": null,
"cds_length": 1212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000622264.4",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.316+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480649.1",
"strand": false,
"transcript": "ENST00000622264.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474294.6",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "n.318+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000474294.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 672,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": null,
"cds_end": null,
"cds_length": 2019,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921945.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.328+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592004.1",
"strand": false,
"transcript": "ENST00000921945.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": null,
"cds_end": null,
"cds_length": 1992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950382.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.328+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620441.1",
"strand": false,
"transcript": "ENST00000950382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001201401.2",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.259+19T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188330.1",
"strand": false,
"transcript": "NM_001201401.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": null,
"cds_end": null,
"cds_length": 1989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393568.8",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.259+19T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377198.4",
"strand": false,
"transcript": "ENST00000393568.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001201402.2",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.250+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188331.1",
"strand": false,
"transcript": "NM_001201402.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393569.6",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.250+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377199.2",
"strand": false,
"transcript": "ENST00000393569.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 648,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": null,
"cds_end": null,
"cds_length": 1947,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872271.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.328+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542330.1",
"strand": false,
"transcript": "ENST00000872271.1",
"transcript_support_level": null
},
{
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"aa_length": 629,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424071.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.160+19T>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411000.1",
"strand": false,
"transcript": "NM_001424071.1",
"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": 3896,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001424072.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.160+19T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001411001.1",
"strand": false,
"transcript": "NM_001424072.1",
"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": 3253,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424073.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.160+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411002.1",
"strand": false,
"transcript": "NM_001424073.1",
"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,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000544807.6",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.160+19T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437513.2",
"strand": false,
"transcript": "ENST00000544807.6",
"transcript_support_level": 2
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5339,
"cdna_start": null,
"cds_end": null,
"cds_length": 1710,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424074.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.-21+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411003.1",
"strand": false,
"transcript": "NM_001424074.1",
"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": 3882,
"cdna_start": null,
"cds_end": null,
"cds_length": 1710,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424075.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.-109+19T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411004.1",
"strand": false,
"transcript": "NM_001424075.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "NM_001424076.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.-340+19T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001411005.1",
"strand": false,
"transcript": "NM_001424076.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001424077.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.-340+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411006.1",
"strand": false,
"transcript": "NM_001424077.1",
"transcript_support_level": null
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000555956.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "n.152T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000555956.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554372.5",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "n.328+19T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451884.1",
"strand": false,
"transcript": "ENST00000554372.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 631,
"cdna_start": null,
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