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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: 2-127648346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127648346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GPR17",
"hgnc_id": 4471,
"hgvs_c": "c.-1-1665C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005291.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LIMS2",
"hgnc_id": 16084,
"hgvs_c": "c.432-5274G>A",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_017980.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 18928,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001161403.3",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.360-5274G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355119.9",
"protein_coding": true,
"protein_id": "NP_001154875.1",
"strand": false,
"transcript": "NM_001161403.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355119.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.360-5274G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001161403.3",
"protein_coding": true,
"protein_id": "ENSP00000347240.4",
"strand": false,
"transcript": "ENST00000355119.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001161417.2",
"gene_hgnc_id": 4471,
"gene_symbol": "GPR17",
"hgvs_c": "c.-21+2102C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000486700.2",
"protein_coding": true,
"protein_id": "NP_001154889.1",
"strand": true,
"transcript": "NM_001161417.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000486700.2",
"gene_hgnc_id": 4471,
"gene_symbol": "GPR17",
"hgvs_c": "c.-21+2102C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001161417.2",
"protein_coding": true,
"protein_id": "ENSP00000508383.1",
"strand": true,
"transcript": "ENST00000486700.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 367,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": null,
"cds_end": null,
"cds_length": 1104,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000272644.7",
"gene_hgnc_id": 4471,
"gene_symbol": "GPR17",
"hgvs_c": "c.-1-1665C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000272644.3",
"strand": true,
"transcript": "ENST00000272644.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": null,
"cds_end": null,
"cds_length": 1098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324938.9",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.432-5274G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326888.5",
"strand": false,
"transcript": "ENST00000324938.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409455.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.345-5274G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386383.1",
"strand": false,
"transcript": "ENST00000409455.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410011.5",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.345-5274G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387002.1",
"strand": false,
"transcript": "ENST00000410011.5",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047444975.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.-407G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047300931.1",
"strand": false,
"transcript": "XM_047444975.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1545,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000855737.1",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000525796.1",
"strand": false,
"transcript": "ENST00000855737.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000855740.1",
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"protein_id": "ENSP00000525799.1",
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},
{
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],
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"feature": "ENST00000855742.1",
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},
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],
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"feature": "ENST00000957032.1",
"gene_hgnc_id": 16084,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627091.1",
"strand": false,
"transcript": "ENST00000957032.1",
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},
{
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],
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"feature": "ENST00000957031.1",
"gene_hgnc_id": 16084,
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"hgvs_c": "c.360-5274G>A",
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"protein_id": "ENSP00000627090.1",
"strand": false,
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},
{
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"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
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"feature": "NM_001161415.2",
"gene_hgnc_id": 4471,
"gene_symbol": "GPR17",
"hgvs_c": "c.-2+60C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001154887.1",
"strand": true,
"transcript": "NM_001161415.2",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "NM_005291.3",
"gene_hgnc_id": 4471,
"gene_symbol": "GPR17",
"hgvs_c": "c.-1-1665C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005282.1",
"strand": true,
"transcript": "NM_005291.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
"exon_count": 4,
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"feature": "ENST00000544369.5",
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"protein_id": "ENSP00000442982.1",
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"transcript_support_level": 5
},
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],
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"feature": "ENST00000855738.1",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000855738.1",
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},
{
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],
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"feature": "NM_017980.5",
"gene_hgnc_id": 16084,
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"protein_coding": true,
"protein_id": "NP_060450.2",
"strand": false,
"transcript": "NM_017980.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136037.4",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.426-5274G>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001129509.2",
"strand": false,
"transcript": "NM_001136037.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1092,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545738.6",
"gene_hgnc_id": 16084,
"gene_symbol": "LIMS2",
"hgvs_c": "c.426-5274G>A",
"hgvs_p": null,
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