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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: 11-6431659-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6431659&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HPX",
"hgnc_id": 5171,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_000613.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 1216,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1114,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010905712842941284,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000613.3",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265983.8",
"protein_coding": true,
"protein_id": "NP_000604.1",
"strand": false,
"transcript": "NM_000613.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000265983.8",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000613.3",
"protein_coding": true,
"protein_id": "ENSP00000265983.3",
"strand": false,
"transcript": "ENST00000265983.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 461,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868746.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Arg370Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538805.1",
"strand": false,
"transcript": "ENST00000868746.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 459,
"aa_ref": "R",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868752.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538811.1",
"strand": false,
"transcript": "ENST00000868752.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868750.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538809.1",
"strand": false,
"transcript": "ENST00000868750.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868773.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538832.1",
"strand": false,
"transcript": "ENST00000868773.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868753.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538812.1",
"strand": false,
"transcript": "ENST00000868753.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868755.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538814.1",
"strand": false,
"transcript": "ENST00000868755.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 450,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1540,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868768.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538827.1",
"strand": false,
"transcript": "ENST00000868768.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868760.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Arg347Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538819.1",
"strand": false,
"transcript": "ENST00000868760.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 430,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1293,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868751.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538810.1",
"strand": false,
"transcript": "ENST00000868751.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1257,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868757.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Arg327Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538816.1",
"strand": false,
"transcript": "ENST00000868757.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 414,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1245,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868756.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538815.1",
"strand": false,
"transcript": "ENST00000868756.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 409,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1230,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868761.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.Arg318Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538820.1",
"strand": false,
"transcript": "ENST00000868761.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1212,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868759.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.934C>T",
"hgvs_p": "p.Arg312Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538818.1",
"strand": false,
"transcript": "ENST00000868759.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 402,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1209,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868770.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538829.1",
"strand": false,
"transcript": "ENST00000868770.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1176,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868748.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538807.1",
"strand": false,
"transcript": "ENST00000868748.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1167,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868765.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538824.1",
"strand": false,
"transcript": "ENST00000868765.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 372,
"aa_ref": "R",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1119,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868754.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538813.1",
"strand": false,
"transcript": "ENST00000868754.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1113,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868745.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538804.1",
"strand": false,
"transcript": "ENST00000868745.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1104,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868758.1",
"gene_hgnc_id": 5171,
"gene_symbol": "HPX",
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