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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: 1-45015389-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45015389&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PP2",
"PP5",
"BP4",
"BS1_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UROD",
"hgnc_id": 12591,
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332His",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000374.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP5,BP4,BS1_Supporting",
"acmg_score": 0,
"allele_count_reference_population": 191,
"alphamissense_prediction": null,
"alphamissense_score": 0.1164,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "1",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Familial porphyria cutanea tarda",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1175396740436554,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1104,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000374.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332His",
"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": "H",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1104,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000246337.9",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332His",
"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": "H",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1128,
"cds_start": 1019,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894914.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"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": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1249,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894916.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Arg337His",
"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": "H",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894918.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.1010G>A",
"hgvs_p": "p.Arg337His",
"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": "H",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1101,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894919.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Arg331His",
"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": "H",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1095,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894917.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329His",
"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": "H",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1089,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962747.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.980G>A",
"hgvs_p": "p.Arg327His",
"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": "H",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1041,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000652287.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311His",
"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": "H",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1032,
"cds_start": 923,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937007.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308His",
"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": "H",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1026,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894920.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"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": "H",
"aa_end": null,
"aa_length": 335,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1008,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000894915.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300His",
"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": "H",
"aa_end": null,
"aa_length": 332,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 999,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000651476.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.890G>A",
"hgvs_p": "p.Arg297His",
"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": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 916,
"cds_end": null,
"cds_length": 966,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636293.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"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": "H",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 874,
"cds_end": null,
"cds_length": 963,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937002.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"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": "H",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 874,
"cds_end": null,
"cds_length": 963,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000937003.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"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": "H",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 848,
"cds_end": null,
"cds_length": 945,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894921.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"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": "H",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 897,
"cds_end": null,
"cds_length": 906,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000936999.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"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": "H",
"aa_end": null,
"aa_length": 300,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 837,
"cds_end": null,
"cds_length": 903,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000937000.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607059.1",
"strand": true,
"transcript": "ENST00000937000.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 976,
"cdna_start": 790,
"cds_end": null,
"cds_length": 879,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000937004.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607063.1",
"strand": true,
"transcript": "ENST00000937004.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 288,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 959,
"cdna_start": 778,
"cds_end": null,
"cds_length": 867,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000937005.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
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