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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: 6-3328219-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=3328219&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 3328219,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000406686.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.914-4217G>T",
"hgvs_p": null,
"transcript": "NM_015482.2",
"protein_id": "NP_056297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": "ENST00000406686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.914-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000406686.8",
"protein_id": "ENSP00000385028.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": "NM_015482.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.398-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000485307.5",
"protein_id": "ENSP00000418134.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.71-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000380302.8",
"protein_id": "ENSP00000369657.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.71-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000490273.5",
"protein_id": "ENSP00000419463.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.392-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000467177.5",
"protein_id": "ENSP00000418985.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
"cds_end": null,
"cds_length": 1159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.914-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000380298.2",
"protein_id": "ENSP00000369653.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
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"cds_length": 1086,
"cdna_start": null,
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"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "n.71-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000497691.5",
"protein_id": "ENSP00000417737.1",
"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": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.914-4217G>T",
"hgvs_p": null,
"transcript": "ENST00000436008.6",
"protein_id": "ENSP00000410245.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
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"cdna_length": 6641,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.914-4217G>T",
"hgvs_p": null,
"transcript": "NM_001382317.1",
"protein_id": "NP_001369246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "SLC22A23",
"gene_hgnc_id": 21106,
"hgvs_c": "c.71-4217G>T",
"hgvs_p": null,
"transcript": "NM_001286455.1",
"protein_id": "NP_001273384.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "SLC22A23",
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"transcript": "NM_021945.6",
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},
{
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],
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"gene_symbol": "SLC22A23",
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"transcript": "NM_001286456.2",
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},
{
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],
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"gene_symbol": "SLC22A23",
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},
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],
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},
{
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],
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"gene_symbol": "SLC22A23",
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],
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},
{
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],
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"gene_symbol": "SLC22A23",
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"hgvs_c": "c.986-4217G>T",
"hgvs_p": null,
"transcript": "XM_011514801.3",
"protein_id": "XP_011513103.1",
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},
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],
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"gene_symbol": "SLC22A23",
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},
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],
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"consequences": [
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],
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"gene_symbol": "SLC22A23",
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"hgvs_c": "c.-32-4217G>T",
"hgvs_p": null,
"transcript": "XM_047419241.1",
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},
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"consequences": [
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],
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"gene_symbol": "SLC22A23",
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"hgvs_c": "c.-32-4217G>T",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
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],
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"gene_symbol": "SLC22A23",
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}
],
"gene_symbol": "SLC22A23",
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"dbsnp": "rs4128536",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.154,
"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": "ENST00000406686.8",
"gene_symbol": "SLC22A23",
"hgnc_id": 21106,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.914-4217G>T",
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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
}