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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: 3-97785085-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=97785085&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 97785085,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000463745.6",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "NM_001278293.3",
"protein_id": "NP_001265222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": "ENST00000463745.6",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "ENST00000463745.6",
"protein_id": "ENSP00000419619.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": "NM_001278293.3",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.349+36G>A",
"hgvs_p": null,
"transcript": "ENST00000493990.5",
"protein_id": "ENSP00000418057.1",
"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": 1705,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.587+36G>A",
"hgvs_p": null,
"transcript": "ENST00000496713.1",
"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": 851,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "NM_001323513.2",
"protein_id": "NP_001310442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "ENST00000631834.2",
"protein_id": "ENSP00000488530.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
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"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "NM_032146.5",
"protein_id": "NP_115522.1",
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "NM_177976.3",
"protein_id": "NP_816931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4297,
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
"hgvs_p": null,
"transcript": "ENST00000335979.6",
"protein_id": "ENSP00000337722.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
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"cds_length": 561,
"cdna_start": null,
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"cdna_length": 1630,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.349+36G>A",
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"transcript": "ENST00000462412.3",
"protein_id": "ENSP00000418740.2",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ARL6",
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"hgvs_c": "c.349+36G>A",
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"transcript": "NM_001323514.2",
"protein_id": "NP_001310443.1",
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},
{
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"consequences": [
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],
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},
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],
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},
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],
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},
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],
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],
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],
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"hgvs_c": "n.596+36G>A",
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],
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},
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],
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"intron_rank": 5,
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"gene_symbol": "ARL6",
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"hgvs_c": "n.833+36G>A",
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],
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}
],
"gene_symbol": "ARL6",
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"dbsnp": "rs200081059",
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"computational_score_selected": -0.8600000143051147,
"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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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.69,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -14,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -14,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000463745.6",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}