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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: 19-54663551-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54663551&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LILRB4",
"hgnc_id": 6608,
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001394933.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 309649,
"alphamissense_prediction": null,
"alphamissense_score": 0.2926,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00564122200012207,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1347,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278426.4",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695418.1",
"protein_coding": true,
"protein_id": "NP_001265355.2",
"strand": true,
"transcript": "NM_001278426.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1347,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000695418.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278426.4",
"protein_coding": true,
"protein_id": "ENSP00000511897.1",
"strand": true,
"transcript": "ENST00000695418.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 93,
"cds_end": null,
"cds_length": 1344,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000430952.6",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408995.2",
"strand": true,
"transcript": "ENST00000430952.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1350,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394933.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381862.1",
"strand": true,
"transcript": "NM_001394933.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 68,
"cds_end": null,
"cds_length": 1350,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000391733.7",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375613.3",
"strand": true,
"transcript": "ENST00000391733.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1347,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278428.4",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265357.2",
"strand": true,
"transcript": "NM_001278428.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 369,
"cds_end": null,
"cds_length": 1347,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000391736.5",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375616.1",
"strand": true,
"transcript": "ENST00000391736.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1344,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278427.4",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265356.2",
"strand": true,
"transcript": "NM_001278427.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1344,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394934.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381863.1",
"strand": true,
"transcript": "NM_001394934.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1341,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394935.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381864.1",
"strand": true,
"transcript": "NM_001394935.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1204,
"cdna_start": 61,
"cds_end": null,
"cds_length": 1197,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000434286.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401962.1",
"strand": true,
"transcript": "ENST00000434286.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 395,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1188,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001394939.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381868.1",
"strand": true,
"transcript": "NM_001394939.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 395,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1188,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000391734.7",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375614.3",
"strand": true,
"transcript": "ENST00000391734.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 254,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 103,
"cds_end": null,
"cds_length": 765,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278430.4",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265359.2",
"strand": true,
"transcript": "NM_001278430.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 130,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": 321,
"cds_end": null,
"cds_length": 395,
"cds_start": 177,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000270452.6",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.177G>T",
"hgvs_p": "p.Arg59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270452.3",
"strand": true,
"transcript": "ENST00000270452.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1347,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017026216.2",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881705.2",
"strand": true,
"transcript": "XM_017026216.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1091,
"cdna_start": 103,
"cds_end": null,
"cds_length": 996,
"cds_start": 54,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047438102.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.54G>T",
"hgvs_p": "p.Arg18Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294058.1",
"strand": true,
"transcript": "XM_047438102.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278429.4",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.35-203G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265358.3",
"strand": true,
"transcript": "NM_001278429.4",
"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": 1725,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969966.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.35-203G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640025.1",
"strand": true,
"transcript": "ENST00000969966.1",
"transcript_support_level": null
},
{
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"aa_length": 436,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": null,
"cds_end": null,
"cds_length": 1311,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394936.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.35-203G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381865.1",
"strand": true,
"transcript": "NM_001394936.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 436,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": null,
"cds_end": null,
"cds_length": 1311,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969965.1",
"gene_hgnc_id": 6608,
"gene_symbol": "LILRB4",
"hgvs_c": "c.35-203G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640024.1",
"strand": true,
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