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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: 1-45014835-CGG-GGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45014835&ref=CGG&alt=GGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PP2"
],
"effects": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "UROD",
"hgnc_id": 12591,
"hgvs_c": "c.874_875+1delCGGinsGGC",
"hgvs_p": "p.Arg292Gly",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000374.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PP2",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1104,
"cds_start": 874,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000374.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.874_875+1delCGGinsGGC",
"hgvs_p": "p.Arg292Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000246337.9",
"protein_coding": true,
"protein_id": "NP_000365.3",
"strand": true,
"transcript": "NM_000374.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1104,
"cds_start": 874,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000246337.9",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.874_875+1delCGGinsGGC",
"hgvs_p": "p.Arg292Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000374.5",
"protein_coding": true,
"protein_id": "ENSP00000246337.4",
"strand": true,
"transcript": "ENST00000246337.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1128,
"cds_start": 898,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894914.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.898_899+1delCGGinsGGC",
"hgvs_p": "p.Arg300Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564973.1",
"strand": true,
"transcript": "ENST00000894914.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1249,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1119,
"cds_start": 889,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894916.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.889_890+1delCGGinsGGC",
"hgvs_p": "p.Arg297Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564975.1",
"strand": true,
"transcript": "ENST00000894916.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1119,
"cds_start": 889,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894918.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.889_890+1delCGGinsGGC",
"hgvs_p": "p.Arg297Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564977.1",
"strand": true,
"transcript": "ENST00000894918.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1101,
"cds_start": 874,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894919.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.874_875+1delCGGinsGGC",
"hgvs_p": "p.Arg292Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564978.1",
"strand": true,
"transcript": "ENST00000894919.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1095,
"cds_start": 865,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894917.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.865_866+1delCGGinsGGC",
"hgvs_p": "p.Arg289Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564976.1",
"strand": true,
"transcript": "ENST00000894917.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1089,
"cds_start": 859,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000962747.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.859_860+1delCGGinsGGC",
"hgvs_p": "p.Arg287Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632806.1",
"strand": true,
"transcript": "ENST00000962747.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1041,
"cds_start": 811,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652287.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.811_812+1delCGGinsGGC",
"hgvs_p": "p.Arg271Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498413.1",
"strand": true,
"transcript": "ENST00000652287.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 814,
"cds_end": null,
"cds_length": 1032,
"cds_start": 802,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937007.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.802_803+1delCGGinsGGC",
"hgvs_p": "p.Arg268Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607066.1",
"strand": true,
"transcript": "ENST00000937007.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 814,
"cds_end": null,
"cds_length": 1026,
"cds_start": 796,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894920.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.796_797+1delCGGinsGGC",
"hgvs_p": "p.Arg266Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564979.1",
"strand": true,
"transcript": "ENST00000894920.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1008,
"cds_start": 778,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894915.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.778_779+1delCGGinsGGC",
"hgvs_p": "p.Arg260Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564974.1",
"strand": true,
"transcript": "ENST00000894915.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 332,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 999,
"cds_start": 769,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651476.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.769_770+1delCGGinsGGC",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498668.1",
"strand": true,
"transcript": "ENST00000651476.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 795,
"cds_end": null,
"cds_length": 966,
"cds_start": 736,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636293.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.736_737+1delCGGinsGGC",
"hgvs_p": "p.Arg246Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490710.1",
"strand": true,
"transcript": "ENST00000636293.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 753,
"cds_end": null,
"cds_length": 963,
"cds_start": 733,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937002.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.733_734+1delCGGinsGGC",
"hgvs_p": "p.Arg245Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607061.1",
"strand": true,
"transcript": "ENST00000937002.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 756,
"cds_end": null,
"cds_length": 963,
"cds_start": 736,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937003.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.736_737+1delCGGinsGGC",
"hgvs_p": "p.Arg246Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607062.1",
"strand": true,
"transcript": "ENST00000937003.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 727,
"cds_end": null,
"cds_length": 945,
"cds_start": 715,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894921.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.715_716+1delCGGinsGGC",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564980.1",
"strand": true,
"transcript": "ENST00000894921.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 776,
"cds_end": null,
"cds_length": 906,
"cds_start": 676,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936999.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.676_677+1delCGGinsGGC",
"hgvs_p": "p.Arg226Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607058.1",
"strand": true,
"transcript": "ENST00000936999.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 300,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 716,
"cds_end": null,
"cds_length": 903,
"cds_start": 673,
"consequences": [
"splice_donor_variant",
"missense_variant",
"splice_region_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937000.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.673_674+1delCGGinsGGC",
"hgvs_p": "p.Arg225Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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