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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: 15-40414968-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40414968&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "IVD",
"hgnc_id": 6186,
"hgvs_c": "c.870dupG",
"hgvs_p": "p.Pro291fs",
"inheritance_mode": "AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_001354601.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PM2,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Isovaleryl-CoA dehydrogenase deficiency",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1272,
"cds_start": 871,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_002225.5",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.870dupG",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000487418.8",
"protein_coding": true,
"protein_id": "NP_002216.3",
"strand": true,
"transcript": "NM_002225.5",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1272,
"cds_start": 871,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000487418.8",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.870dupG",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002225.5",
"protein_coding": true,
"protein_id": "ENSP00000418397.3",
"strand": true,
"transcript": "ENST00000487418.8",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4251,
"cdna_start": 814,
"cds_end": null,
"cds_length": 1182,
"cds_start": 781,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000479013.7",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.780dupG",
"hgvs_p": "p.Pro261fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417990.3",
"strand": true,
"transcript": "ENST00000479013.7",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 484,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1455,
"cds_start": 871,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354601.3",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.870dupG",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341530.2",
"strand": true,
"transcript": "NM_001354601.3",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 474,
"aa_ref": "P",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1024,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868500.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.1023dupG",
"hgvs_p": "p.Pro342fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538559.1",
"strand": true,
"transcript": "ENST00000868500.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 473,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1422,
"cds_start": 958,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354600.3",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.957dupG",
"hgvs_p": "p.Pro320fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341529.2",
"strand": true,
"transcript": "NM_001354600.3",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1359,
"cds_start": 958,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354599.3",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.957dupG",
"hgvs_p": "p.Pro320fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341528.2",
"strand": true,
"transcript": "NM_001354599.3",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1335,
"cds_start": 871,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354598.3",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.870dupG",
"hgvs_p": "p.Pro291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341527.2",
"strand": true,
"transcript": "NM_001354598.3",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 431,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4345,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1296,
"cds_start": 895,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868497.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.894dupG",
"hgvs_p": "p.Pro299fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538556.1",
"strand": true,
"transcript": "ENST00000868497.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 429,
"aa_ref": "P",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1290,
"cds_start": 889,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966717.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.888dupG",
"hgvs_p": "p.Pro297fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636776.1",
"strand": true,
"transcript": "ENST00000966717.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 428,
"aa_ref": "P",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1287,
"cds_start": 886,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868496.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.885dupG",
"hgvs_p": "p.Pro296fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538555.1",
"strand": true,
"transcript": "ENST00000868496.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 426,
"aa_ref": "P",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4665,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1281,
"cds_start": 880,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000651168.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Pro294fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499074.1",
"strand": true,
"transcript": "ENST00000651168.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 420,
"aa_ref": "P",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1263,
"cds_start": 862,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868499.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.861dupG",
"hgvs_p": "p.Pro288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538558.1",
"strand": true,
"transcript": "ENST00000868499.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4729,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1224,
"cds_start": 823,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354597.3",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.822dupG",
"hgvs_p": "p.Pro275fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341526.1",
"strand": true,
"transcript": "NM_001354597.3",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 396,
"aa_ref": "P",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1191,
"cds_start": 790,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000650656.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.789dupG",
"hgvs_p": "p.Pro264fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498731.1",
"strand": true,
"transcript": "ENST00000650656.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1188,
"cds_start": 787,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868498.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.786dupG",
"hgvs_p": "p.Pro263fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538557.1",
"strand": true,
"transcript": "ENST00000868498.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1188,
"cds_start": 787,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966716.1",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.786dupG",
"hgvs_p": "p.Pro263fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636775.1",
"strand": true,
"transcript": "ENST00000966716.1",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 814,
"cds_end": null,
"cds_length": 1182,
"cds_start": 781,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001159508.3",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.780dupG",
"hgvs_p": "p.Pro261fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152980.2",
"strand": true,
"transcript": "NM_001159508.3",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 305,
"aa_ref": "P",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": 630,
"cds_end": null,
"cds_length": 918,
"cds_start": 628,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000473112.6",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.627dupG",
"hgvs_p": "p.Pro210fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417256.2",
"strand": true,
"transcript": "ENST00000473112.6",
"transcript_support_level": 5
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 243,
"aa_ref": "P",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 268,
"cds_end": null,
"cds_length": 732,
"cds_start": 268,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000491554.6",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.267dupG",
"hgvs_p": "p.Pro90fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453146.1",
"strand": true,
"transcript": "ENST00000491554.6",
"transcript_support_level": 3
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 516,
"aa_ref": "P",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1551,
"cds_start": 967,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017022149.2",
"gene_hgnc_id": 6186,
"gene_symbol": "IVD",
"hgvs_c": "c.966dupG",
"hgvs_p": "p.Pro323fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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