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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: 14-87976368-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=87976368&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GALC",
"hgnc_id": 4115,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": -17,
"transcript": "NM_000153.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -17,
"allele_count_reference_population": 228490,
"alphamissense_prediction": null,
"alphamissense_score": 0.1364,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "14",
"clinvar_classification": " other,Benign",
"clinvar_disease": "GALC-related disorder,Galactosylceramide beta-galactosidase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5 O:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002220660448074341,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 685,
"aa_ref": "D",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 760,
"cds_end": null,
"cds_length": 2058,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000153.4",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 685,
"aa_ref": "D",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 760,
"cds_end": null,
"cds_length": 2058,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000261304.7",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 403,
"aa_ref": "D",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1212,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000622264.4",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"intron_rank": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000474294.6",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "n.732G>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": "ENST00000474294.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 672,
"aa_ref": "D",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 706,
"cds_end": null,
"cds_length": 2019,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921945.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Asp235Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 663,
"aa_ref": "D",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1992,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950382.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 662,
"aa_ref": "D",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1989,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001201401.2",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 662,
"aa_ref": "D",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1989,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393568.8",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Asp225Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 659,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1980,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001201402.2",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 659,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2547,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1980,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000393569.6",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 648,
"aa_ref": "D",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1947,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000872271.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"intron_rank": null,
"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
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 629,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1890,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001424071.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411000.1",
"strand": false,
"transcript": "NM_001424071.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 629,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1890,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001424072.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411001.1",
"strand": false,
"transcript": "NM_001424072.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 589,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1770,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001424073.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"intron_rank": null,
"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
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 589,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1770,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000544807.6",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437513.2",
"strand": false,
"transcript": "ENST00000544807.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 569,
"aa_ref": "D",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5339,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 1710,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001424074.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Asp132Asn",
"intron_rank": null,
"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
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 569,
"aa_ref": "D",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1710,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001424075.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Asp132Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411004.1",
"strand": false,
"transcript": "NM_001424075.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3900,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1425,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001424076.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Asp37Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411005.1",
"strand": false,
"transcript": "NM_001424076.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 474,
"aa_ref": "D",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1425,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001424077.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Asp37Asn",
"intron_rank": null,
"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
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 569,
"aa_ref": "D",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1710,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431199.1",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Asp132Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287155.1",
"strand": false,
"transcript": "XM_047431199.1",
"transcript_support_level": null
},
{
"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": 605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000477716.3",
"gene_hgnc_id": 4115,
"gene_symbol": "GALC",
"hgvs_c": "n.497G>A",
"hgvs_p": null,
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}