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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: 4-102598208-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102598208&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102598208,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000226574.9",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1637+547G>T",
"hgvs_p": null,
"transcript": "NM_003998.4",
"protein_id": "NP_003989.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": "ENST00000226574.9",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1637+547G>T",
"hgvs_p": null,
"transcript": "ENST00000226574.9",
"protein_id": "ENSP00000226574.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": "NM_003998.4",
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1634+547G>T",
"hgvs_p": null,
"transcript": "ENST00000394820.8",
"protein_id": "ENSP00000378297.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1634+547G>T",
"hgvs_p": null,
"transcript": "ENST00000505458.5",
"protein_id": "ENSP00000424790.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105377347",
"gene_hgnc_id": null,
"hgvs_c": "n.1773C>A",
"hgvs_p": null,
"transcript": "XR_001741780.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2326,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1661+547G>T",
"hgvs_p": null,
"transcript": "ENST00000507079.6",
"protein_id": "ENSP00000426147.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4153,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1637+547G>T",
"hgvs_p": null,
"transcript": "NM_001382625.1",
"protein_id": "NP_001369554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3934,
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1637+547G>T",
"hgvs_p": null,
"transcript": "NM_001382626.1",
"protein_id": "NP_001369555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1637+547G>T",
"hgvs_p": null,
"transcript": "ENST00000509165.2",
"protein_id": "ENSP00000423877.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3741,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1634+547G>T",
"hgvs_p": null,
"transcript": "NM_001165412.2",
"protein_id": "NP_001158884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 968,
"cds_start": -4,
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"cds_length": 2907,
"cdna_start": null,
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"cdna_length": 4052,
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1634+547G>T",
"hgvs_p": null,
"transcript": "NM_001319226.2",
"protein_id": "NP_001306155.1",
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"aa_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 16,
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"gene_symbol": "NFKB1",
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"hgvs_c": "c.1634+547G>T",
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"transcript": "NM_001382627.1",
"protein_id": "NP_001369556.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
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"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1595+547G>T",
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"transcript": "NM_001382628.1",
"protein_id": "NP_001369557.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NFKB1",
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"hgvs_c": "n.2233+547G>T",
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"transcript": "ENST00000600343.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "NFKB1",
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"hgvs_c": "n.*853+547G>T",
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"transcript": "ENST00000652569.1",
"protein_id": "ENSP00000498904.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
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"gene_symbol": "NFKB1",
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"hgvs_c": "n.*164+547G>T",
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"transcript": "ENST00000652619.1",
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},
{
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],
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"intron_rank": 13,
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"gene_symbol": "NFKB1",
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"hgvs_c": "n.*1278+547G>T",
"hgvs_p": null,
"transcript": "ENST00000697794.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 7,
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"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "n.1134+547G>T",
"hgvs_p": null,
"transcript": "ENST00000697799.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "n.1366+547G>T",
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"protein_id": null,
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],
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"hgvs_c": "c.1637+547G>T",
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},
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"strand": true,
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],
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"gene_symbol": "NFKB1",
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"transcript": "XM_047415742.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 15,
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"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1502+547G>T",
"hgvs_p": null,
"transcript": "XM_024454069.2",
"protein_id": "XP_024309837.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "NFKB1",
"gene_hgnc_id": 7794,
"hgvs_c": "c.1241+547G>T",
"hgvs_p": null,
"transcript": "XM_047415743.1",
"protein_id": "XP_047271699.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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}
],
"gene_symbol": "NFKB1",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000065812,
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"gnomad_genomes_ac": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.375,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000226574.9",
"gene_symbol": "NFKB1",
"hgnc_id": 7794,
"effects": [
"intron_variant"
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"inheritance_mode": "AD",
"hgvs_c": "c.1637+547G>T",
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{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001741780.2",
"gene_symbol": "LOC105377347",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1773C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}