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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: 18-70024284-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=70024284&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 70024284,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000640769.2",
"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": 49,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5950+438T>G",
"hgvs_p": null,
"transcript": "NM_173630.4",
"protein_id": "NP_775901.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2226,
"cds_start": -4,
"cds_end": null,
"cds_length": 6681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": "ENST00000640769.2",
"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": 49,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5950+438T>G",
"hgvs_p": null,
"transcript": "ENST00000640769.2",
"protein_id": "ENSP00000491507.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2226,
"cds_start": -4,
"cds_end": null,
"cds_length": 6681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7830,
"mane_select": "NM_173630.4",
"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": 48,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*4264+438T>G",
"hgvs_p": null,
"transcript": "ENST00000581161.5",
"protein_id": "ENSP00000462926.1",
"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": 6722,
"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": 43,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*3221+438T>G",
"hgvs_p": null,
"transcript": "ENST00000583043.5",
"protein_id": "ENSP00000462733.1",
"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": 6278,
"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": 49,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5950+438T>G",
"hgvs_p": null,
"transcript": "ENST00000255674.11",
"protein_id": "ENSP00000255674.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2200,
"cds_start": -4,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6960,
"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": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.3349+438T>G",
"hgvs_p": null,
"transcript": "ENST00000677824.1",
"protein_id": "ENSP00000504646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1359,
"cds_start": -4,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4347,
"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": 48,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.3214+438T>G",
"hgvs_p": null,
"transcript": "NM_001318520.2",
"protein_id": "NP_001305449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": -4,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7647,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.457+438T>G",
"hgvs_p": null,
"transcript": "ENST00000578780.2",
"protein_id": "ENSP00000462675.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2333,
"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": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*1074+438T>G",
"hgvs_p": null,
"transcript": "ENST00000579986.6",
"protein_id": "ENSP00000491518.1",
"transcript_support_level": 5,
"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": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.161+438T>G",
"hgvs_p": null,
"transcript": "ENST00000583765.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.3496+438T>G",
"hgvs_p": null,
"transcript": "ENST00000639128.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "RTTN",
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"hgvs_c": "n.*920+438T>G",
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"transcript": "ENST00000639487.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "RTTN",
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"hgvs_c": "n.*1757+438T>G",
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"transcript": "ENST00000679113.1",
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},
{
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],
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"gene_symbol": "RTTN",
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"hgvs_c": "c.5953+438T>G",
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"transcript": "XM_006722434.4",
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],
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},
{
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"consequences": [
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],
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"gene_symbol": "RTTN",
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},
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],
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"gene_symbol": "RTTN",
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"hgvs_c": "c.5521+438T>G",
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"transcript": "XM_047437468.1",
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],
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],
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},
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],
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"gene_symbol": "RTTN",
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"hgvs_c": "c.4888+438T>G",
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"transcript": "XM_017025695.2",
"protein_id": "XP_016881184.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "RTTN",
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"hgvs_c": "c.4453+438T>G",
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},
{
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"strand": false,
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}
],
"gene_symbol": "RTTN",
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"dbsnp": "rs1369290",
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.759781,
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"gnomad_genomes_ac": 115631,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 51365,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.224,
"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": -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": "ENST00000640769.2",
"gene_symbol": "RTTN",
"hgnc_id": 18654,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5950+438T>G",
"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
}