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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: 6-154092120-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=154092120&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 154092120,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000330432.12",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "NM_000914.5",
"protein_id": "NP_000905.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": "ENST00000330432.12",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000330432.12",
"protein_id": "ENSP00000328264.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15143,
"mane_select": "NM_000914.5",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1443+648A>G",
"hgvs_p": null,
"transcript": "ENST00000434900.6",
"protein_id": "ENSP00000394624.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000229768.9",
"protein_id": "ENSP00000229768.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1465,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000419506.6",
"protein_id": "ENSP00000403549.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000337049.8",
"protein_id": "ENSP00000338381.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1389,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000452687.6",
"protein_id": "ENSP00000410497.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1352,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000414028.6",
"protein_id": "ENSP00000399359.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "OPRM1",
"gene_hgnc_id": 8156,
"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000435918.6",
"protein_id": "ENSP00000413752.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
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"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"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": 4,
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"gene_symbol": "OPRM1",
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"hgvs_c": "c.1164+648A>G",
"hgvs_p": null,
"transcript": "ENST00000524163.5",
"protein_id": "ENSP00000430097.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "OPRM1",
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"hgvs_c": "c.921+648A>G",
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"transcript": "ENST00000518759.5",
"protein_id": "ENSP00000430260.1",
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},
{
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],
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},
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],
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],
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],
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},
{
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],
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},
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],
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"gene_symbol": "OPRM1",
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"hgvs_c": "c.1443+648A>G",
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"transcript": "NM_001285524.1",
"protein_id": "NP_001272453.1",
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],
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"exon_count": 4,
"intron_rank": 3,
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],
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],
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"gene_symbol": "OPRM1",
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"hgvs_c": "c.1164+648A>G",
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"transcript": "NM_001145282.2",
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},
{
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],
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"exon_count": 4,
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"gene_symbol": "OPRM1",
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"hgvs_c": "c.1164+648A>G",
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},
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{
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"gnomad_genomes_ac": 16124,
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"computational_score_selected": -0.7900000214576721,
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"splice_prediction_selected": null,
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Benign",
"transcript": "ENST00000330432.12",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}