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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: 9-92107870-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92107870&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92107870,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000262554.7",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "NM_006415.4",
"protein_id": "NP_006406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "ENST00000262554.7",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "ENST00000262554.7",
"protein_id": "ENSP00000262554.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "NM_006415.4",
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "ENST00000337841.4",
"protein_id": "ENSP00000337635.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 946,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*476G>T",
"hgvs_p": null,
"transcript": "ENST00000488921.6",
"protein_id": "ENSP00000510034.1",
"transcript_support_level": 3,
"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": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.*866G>T",
"hgvs_p": null,
"transcript": "ENST00000461132.2",
"protein_id": "ENSP00000509096.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.*196G>T",
"hgvs_p": null,
"transcript": "ENST00000692363.1",
"protein_id": "ENSP00000509481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*476G>T",
"hgvs_p": null,
"transcript": "ENST00000488921.6",
"protein_id": "ENSP00000510034.1",
"transcript_support_level": 3,
"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": 1311,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "NM_001281303.2",
"protein_id": "NP_001268232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2751,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "ENST00000686600.1",
"protein_id": "ENSP00000509268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "ENST00000687972.1",
"protein_id": "ENSP00000509208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
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"cds_length": 1482,
"cdna_start": null,
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"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.-240+870G>T",
"hgvs_p": null,
"transcript": "NM_001368272.1",
"protein_id": "NP_001355201.1",
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"aa_start": null,
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"aa_length": 351,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 16,
"intron_rank": 4,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "c.-206+870G>T",
"hgvs_p": null,
"transcript": "NM_001368273.1",
"protein_id": "NP_001355202.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.260+870G>T",
"hgvs_p": null,
"transcript": "NM_178324.3",
"protein_id": "NP_847894.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.29+870G>T",
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"transcript": "ENST00000477888.1",
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},
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],
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 3,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.260+870G>T",
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},
{
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],
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"gene_symbol": "SPTLC1",
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"transcript": "ENST00000646534.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 16,
"intron_rank": 3,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.357+870G>T",
"hgvs_p": null,
"transcript": "ENST00000686799.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
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"hgvs_c": "n.260+870G>T",
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"transcript": "ENST00000687427.1",
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*276+870G>T",
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"transcript": "ENST00000689423.1",
"protein_id": "ENSP00000508519.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.260+870G>T",
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"transcript": "ENST00000690139.1",
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},
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{
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"intron_variant"
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}
],
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"dbsnp": "rs1970121",
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"hom_count_reference_population": 9627,
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"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.305969,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 46533,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 9627,
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"computational_score_selected": -0.9900000095367432,
"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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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.946,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"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": "ENST00000262554.7",
"gene_symbol": "SPTLC1",
"hgnc_id": 11277,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.260+870G>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
}