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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: 8-18221770-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18221770&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18221770,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000307719.9",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "NM_000662.8",
"protein_id": "NP_000653.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": "ENST00000307719.9",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "ENST00000307719.9",
"protein_id": "ENSP00000307218.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": "NM_000662.8",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "ENST00000518029.5",
"protein_id": "ENSP00000428270.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "n.522-272T>C",
"hgvs_p": null,
"transcript": "ENST00000519006.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-278T>C",
"hgvs_p": null,
"transcript": "NM_001160174.3",
"protein_id": "NP_001153646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2022,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.181-272T>C",
"hgvs_p": null,
"transcript": "NM_001160175.4",
"protein_id": "NP_001153647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2067,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.181-272T>C",
"hgvs_p": null,
"transcript": "NM_001160176.4",
"protein_id": "NP_001153648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.181-272T>C",
"hgvs_p": null,
"transcript": "NM_001291962.2",
"protein_id": "NP_001278891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2122,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.181-272T>C",
"hgvs_p": null,
"transcript": "ENST00000545197.3",
"protein_id": "ENSP00000443194.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1902,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "NM_001160170.4",
"protein_id": "NP_001153642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "NM_001160171.4",
"protein_id": "NP_001153643.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "NM_001160172.4",
"protein_id": "NP_001153644.1",
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "NM_001160173.4",
"protein_id": "NP_001153645.1",
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"aa_start": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "NAT1",
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"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "NM_001160179.3",
"protein_id": "NP_001153651.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "NAT1",
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"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "ENST00000517492.5",
"protein_id": "ENSP00000429407.1",
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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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "n.347-272T>C",
"hgvs_p": null,
"transcript": "ENST00000517441.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"hgvs_c": "n.277-272T>C",
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"transcript": "ENST00000517574.5",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.181-272T>C",
"hgvs_p": null,
"transcript": "XM_047422397.1",
"protein_id": "XP_047278353.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.181-272T>C",
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"transcript": "XM_047422398.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 2,
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},
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],
"exon_rank": null,
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"gene_symbol": "NAT1",
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"hgvs_c": "c.-6-272T>C",
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"transcript": "XM_011544689.3",
"protein_id": "XP_011542991.1",
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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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-6-272T>C",
"hgvs_p": null,
"transcript": "XM_047422399.1",
"protein_id": "XP_047278355.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"hgvs_c": "c.-278T>C",
"hgvs_p": null,
"transcript": "ENST00000520546.1",
"protein_id": "ENSP00000429341.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAT1",
"gene_hgnc_id": 7645,
"dbsnp": "rs17126356",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.464,
"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": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000307719.9",
"gene_symbol": "NAT1",
"hgnc_id": 7645,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-6-272T>C",
"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
}