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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: 17-27645339-CG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=27645339&ref=CG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LGALS9",
"hgnc_id": 6570,
"hgvs_c": "c.566_567delCGinsTC",
"hgvs_p": "p.Pro189Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_009587.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "P",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1068,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_009587.3",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.566_567delCGinsTC",
"hgvs_p": "p.Pro189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395473.7",
"protein_coding": true,
"protein_id": "NP_033665.1",
"strand": true,
"transcript": "NM_009587.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "P",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1068,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395473.7",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.566_567delCGinsTC",
"hgvs_p": "p.Pro189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_009587.3",
"protein_coding": true,
"protein_id": "ENSP00000378856.2",
"strand": true,
"transcript": "ENST00000395473.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 972,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302228.9",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.470_471delCGinsTC",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306228.5",
"strand": true,
"transcript": "ENST00000302228.9",
"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": 2349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000481514.5",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "n.1275_1276delCGinsTC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481514.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 361,
"aa_ref": "P",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1086,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870767.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.566_567delCGinsTC",
"hgvs_p": "p.Pro189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540826.1",
"strand": true,
"transcript": "ENST00000870767.1",
"transcript_support_level": null
},
{
"aa_alt": "PR",
"aa_end": null,
"aa_length": 333,
"aa_ref": "PG",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1002,
"cds_start": 663,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948117.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.663_664delCGinsTC",
"hgvs_p": "p.Gly222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618176.1",
"strand": true,
"transcript": "ENST00000948117.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 332,
"aa_ref": "P",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 540,
"cds_end": null,
"cds_length": 999,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870768.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.497_498delCGinsTC",
"hgvs_p": "p.Pro166Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540827.1",
"strand": true,
"transcript": "ENST00000870768.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 329,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 550,
"cds_end": null,
"cds_length": 990,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870765.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.470_471delCGinsTC",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540824.1",
"strand": true,
"transcript": "ENST00000870765.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 329,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 541,
"cds_end": null,
"cds_length": 990,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870766.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.470_471delCGinsTC",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540825.1",
"strand": true,
"transcript": "ENST00000870766.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 323,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 548,
"cds_end": null,
"cds_length": 972,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002308.4",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.470_471delCGinsTC",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002299.2",
"strand": true,
"transcript": "NM_002308.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 442,
"cds_end": null,
"cds_length": 903,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870769.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.401_402delCGinsTC",
"hgvs_p": "p.Pro134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540828.1",
"strand": true,
"transcript": "ENST00000870769.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 246,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 548,
"cds_end": null,
"cds_length": 741,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330163.2",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.470_471delCGinsTC",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317092.1",
"strand": true,
"transcript": "NM_001330163.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 246,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 588,
"cds_end": null,
"cds_length": 741,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313648.10",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.470_471delCGinsTC",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318214.6",
"strand": true,
"transcript": "ENST00000313648.10",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 114,
"aa_ref": "P",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 594,
"cdna_start": 545,
"cds_end": null,
"cds_length": 345,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000584661.5",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.296_297delCGinsTC",
"hgvs_p": "p.Pro99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467505.1",
"strand": true,
"transcript": "ENST00000584661.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "P",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 644,
"cds_end": null,
"cds_length": 837,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006721893.4",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.566_567delCGinsTC",
"hgvs_p": "p.Pro189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721956.1",
"strand": true,
"transcript": "XM_006721893.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 326,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1566,
"cdna_start": null,
"cds_end": null,
"cds_length": 981,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870772.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.541-1208_541-1207delCGinsTC",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540831.1",
"strand": true,
"transcript": "ENST00000870772.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870770.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.445-522_445-521delCGinsTC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540829.1",
"strand": true,
"transcript": "ENST00000870770.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": null,
"cds_end": null,
"cds_length": 936,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870764.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.445-522_445-521delCGinsTC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540823.1",
"strand": true,
"transcript": "ENST00000870764.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 297,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": null,
"cds_end": null,
"cds_length": 894,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870771.1",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.445-522_445-521delCGinsTC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540830.1",
"strand": true,
"transcript": "ENST00000870771.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 598,
"cdna_start": null,
"cds_end": null,
"cds_length": 525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000577392.5",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.445-1691_445-1690delCGinsTC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462359.1",
"strand": true,
"transcript": "ENST00000577392.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 754,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581710.5",
"gene_hgnc_id": 6570,
"gene_symbol": "LGALS9",
"hgvs_c": "c.151-522_151-521delCGinsTC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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