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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: 1-161230796-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161230796&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161230796,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367983.9",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.917+17A>C",
"hgvs_p": null,
"transcript": "NM_005122.5",
"protein_id": "NP_005113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": "ENST00000367983.9",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.917+17A>C",
"hgvs_p": null,
"transcript": "ENST00000367983.9",
"protein_id": "ENSP00000356962.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": "NM_005122.5",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.944+17A>C",
"hgvs_p": null,
"transcript": "ENST00000367979.6",
"protein_id": "ENSP00000356958.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1074,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.929+17A>C",
"hgvs_p": null,
"transcript": "ENST00000367982.8",
"protein_id": "ENSP00000356961.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1322,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.932+17A>C",
"hgvs_p": null,
"transcript": "ENST00000428574.6",
"protein_id": "ENSP00000412672.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1117,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.929+17A>C",
"hgvs_p": null,
"transcript": "ENST00000442691.6",
"protein_id": "ENSP00000406493.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": -4,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1114,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.845+17A>C",
"hgvs_p": null,
"transcript": "ENST00000367981.7",
"protein_id": "ENSP00000356960.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.830+17A>C",
"hgvs_p": null,
"transcript": "ENST00000511676.5",
"protein_id": "ENSP00000427175.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1061,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.857+17A>C",
"hgvs_p": null,
"transcript": "ENST00000412844.6",
"protein_id": "ENSP00000399361.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 989,
"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,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.815+17A>C",
"hgvs_p": null,
"transcript": "ENST00000367985.7",
"protein_id": "ENSP00000356965.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.845+17A>C",
"hgvs_p": null,
"transcript": "ENST00000508740.5",
"protein_id": "ENSP00000423666.1",
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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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"gene_symbol": "NR1I3",
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"transcript": "ENST00000367984.8",
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},
{
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],
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"exon_count": 8,
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"gene_symbol": "NR1I3",
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"hgvs_c": "c.830+17A>C",
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"transcript": "ENST00000437437.6",
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},
{
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],
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"gene_symbol": "NR1I3",
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},
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],
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},
{
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],
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"gene_symbol": "NR1I3",
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"transcript": "ENST00000515621.5",
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],
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"gene_symbol": "NR1I3",
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"hgvs_c": "c.713+17A>C",
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},
{
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"strand": false,
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],
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"intron_rank": 5,
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"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.*46+17A>C",
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"transcript": "ENST00000502985.5",
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "NR1I3",
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],
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},
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"strand": false,
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],
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"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "n.*270+17A>C",
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"transcript": "ENST00000502848.5",
"protein_id": "ENSP00000426016.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "n.*215+17A>C",
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"transcript": "ENST00000506018.5",
"protein_id": "ENSP00000424834.1",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.83,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -20,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367983.9",
"gene_symbol": "NR1I3",
"hgnc_id": 7969,
"effects": [
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],
"inheritance_mode": "AD",
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{
"score": -20,
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"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367988.8",
"gene_symbol": "TOMM40L",
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],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}