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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: 1-156730859-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156730859&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156730859,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000368216.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "NM_015997.4",
"protein_id": "NP_057081.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": "ENST00000368216.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "ENST00000368216.9",
"protein_id": "ENSP00000357199.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": "NM_015997.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "ENST00000519086.5",
"protein_id": "ENSP00000429756.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "NM_001142560.2",
"protein_id": "NP_001136032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "ENST00000368218.8",
"protein_id": "ENSP00000357201.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-360-1132T>G",
"hgvs_p": null,
"transcript": "ENST00000484742.5",
"protein_id": "ENSP00000429053.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1422T>G",
"hgvs_p": null,
"transcript": "ENST00000524343.1",
"protein_id": "ENSP00000429389.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "XM_005245234.6",
"protein_id": "XP_005245291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-87-1132T>G",
"hgvs_p": null,
"transcript": "XM_011509600.2",
"protein_id": "XP_011507902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
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"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-87-1132T>G",
"hgvs_p": null,
"transcript": "XM_017001404.2",
"protein_id": "XP_016856893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2153,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1507T>G",
"hgvs_p": null,
"transcript": "XM_005245235.6",
"protein_id": "XP_005245292.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 405,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2061,
"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "METTL25B",
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"hgvs_c": "c.112-1132T>G",
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"transcript": "XM_047421932.1",
"protein_id": "XP_047277888.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-360-1132T>G",
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"transcript": "XM_047421937.1",
"protein_id": "XP_047277893.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "XM_005245236.6",
"protein_id": "XP_005245293.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "XM_005245237.6",
"protein_id": "XP_005245294.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.-485-1132T>G",
"hgvs_p": null,
"transcript": "XM_047421943.1",
"protein_id": "XP_047277899.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "METTL25B",
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"hgvs_c": "c.-479-1132T>G",
"hgvs_p": null,
"transcript": "XM_047421944.1",
"protein_id": "XP_047277900.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null,
"transcript": "XM_024447421.2",
"protein_id": "XP_024303189.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"hgvs_c": "c.112-1507T>G",
"hgvs_p": null,
"transcript": "XM_047421948.1",
"protein_id": "XP_047277904.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "METTL25B",
"gene_hgnc_id": 24273,
"dbsnp": "rs12145743",
"frequency_reference_population": 0.24016504,
"hom_count_reference_population": 5662,
"allele_count_reference_population": 36556,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.240165,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 36556,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5662,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.055,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000368216.9",
"gene_symbol": "METTL25B",
"hgnc_id": 24273,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.112-1132T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}