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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: 7-103389468-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103389468&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103389468,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000393727.5",
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-44T>C",
"hgvs_p": null,
"transcript": "NM_198999.3",
"protein_id": "NP_945350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "ENST00000306312.8",
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-44T>C",
"hgvs_p": null,
"transcript": "ENST00000306312.8",
"protein_id": "ENSP00000304783.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2719,
"mane_select": "NM_198999.3",
"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": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-44T>C",
"hgvs_p": null,
"transcript": "ENST00000393727.5",
"protein_id": "ENSP00000377328.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": -4,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"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": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-354T>C",
"hgvs_p": null,
"transcript": "ENST00000393723.2",
"protein_id": "ENSP00000377324.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2174,
"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": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-354T>C",
"hgvs_p": null,
"transcript": "ENST00000393730.5",
"protein_id": "ENSP00000377331.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"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": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-44T>C",
"hgvs_p": null,
"transcript": "ENST00000339444.10",
"protein_id": "ENSP00000342396.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2474,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-44T>C",
"hgvs_p": null,
"transcript": "ENST00000393735.6",
"protein_id": "ENSP00000377336.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1947,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.971+8464T>C",
"hgvs_p": null,
"transcript": "ENST00000356767.8",
"protein_id": "ENSP00000349210.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1404,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-354T>C",
"hgvs_p": null,
"transcript": "NM_001167962.2",
"protein_id": "NP_001161434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1312-354T>C",
"hgvs_p": null,
"transcript": "ENST00000432958.6",
"protein_id": "ENSP00000389733.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "c.1201-44T>C",
"hgvs_p": null,
"transcript": "ENST00000393729.5",
"protein_id": "ENSP00000377330.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SLC26A5",
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"hgvs_c": "c.1312-44T>C",
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"transcript": "NM_206883.3",
"protein_id": "NP_996766.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 12,
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"gene_symbol": "SLC26A5",
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"hgvs_c": "c.1312-354T>C",
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"transcript": "NM_001321787.2",
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},
{
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],
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"gene_symbol": "SLC26A5",
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"hgvs_c": "c.1312-44T>C",
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"transcript": "NM_206884.3",
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},
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],
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"gene_symbol": "SLC26A5",
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"hgvs_c": "c.971+8464T>C",
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"transcript": "NM_206885.3",
"protein_id": "NP_996768.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 17,
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"gene_symbol": "SLC26A5",
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"hgvs_c": "n.1312-354T>C",
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"transcript": "ENST00000423416.5",
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},
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],
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"gene_symbol": "SLC26A5",
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"hgvs_c": "n.*365-44T>C",
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"transcript": "ENST00000445809.5",
"protein_id": "ENSP00000396833.1",
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},
{
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"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "SLC26A5",
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"hgvs_c": "n.1234-354T>C",
"hgvs_p": null,
"transcript": "ENST00000454864.5",
"protein_id": "ENSP00000416502.1",
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},
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"strand": false,
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],
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"intron_rank": 10,
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"hgvs_c": "n.*513-44T>C",
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],
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},
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],
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"gene_symbol": "SLC26A5",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "SLC26A5",
"gene_hgnc_id": 9359,
"hgvs_c": "n.1294-44T>C",
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"transcript": "NR_120442.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
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"gene_symbol": "SLC26A5",
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"hgvs_c": "n.1416-354T>C",
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"transcript": "NR_120443.1",
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{
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}
],
"gene_symbol": "SLC26A5",
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"dbsnp": "rs62482415",
"frequency_reference_population": 0.14396812,
"hom_count_reference_population": 15869,
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"gnomad_exomes_af": 0.144764,
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"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.975,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000393727.5",
"gene_symbol": "SLC26A5",
"hgnc_id": 9359,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}