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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: 11-120469674-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=120469674&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 120469674,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000397843.7",
"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": 41,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2955+286G>A",
"hgvs_p": null,
"transcript": "NM_015313.3",
"protein_id": "NP_056128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10326,
"mane_select": "ENST00000397843.7",
"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": 41,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2955+286G>A",
"hgvs_p": null,
"transcript": "ENST00000397843.7",
"protein_id": "ENSP00000380942.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10326,
"mane_select": "NM_015313.3",
"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": 41,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2646+286G>A",
"hgvs_p": null,
"transcript": "ENST00000532993.5",
"protein_id": "ENSP00000432984.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8753,
"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": 40,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2898+286G>A",
"hgvs_p": null,
"transcript": "NM_001198665.2",
"protein_id": "NP_001185594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10269,
"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": 40,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2898+286G>A",
"hgvs_p": null,
"transcript": "ENST00000356641.7",
"protein_id": "ENSP00000349056.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6891,
"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": 41,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2646+286G>A",
"hgvs_p": null,
"transcript": "NM_001301084.2",
"protein_id": "NP_001288013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9623,
"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": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "n.3089+286G>A",
"hgvs_p": null,
"transcript": "ENST00000529970.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3786,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "n.3030+286G>A",
"hgvs_p": null,
"transcript": "ENST00000531616.1",
"protein_id": null,
"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": 3108,
"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": 40,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2880+286G>A",
"hgvs_p": null,
"transcript": "XM_006718805.4",
"protein_id": "XP_006718868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1519,
"cds_start": -4,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
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"cdna_length": 10251,
"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,
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"exon_count": 40,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2835+286G>A",
"hgvs_p": null,
"transcript": "XM_047426659.1",
"protein_id": "XP_047282615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1504,
"cds_start": -4,
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"cdna_start": null,
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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": 39,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2823+286G>A",
"hgvs_p": null,
"transcript": "XM_047426660.1",
"protein_id": "XP_047282616.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ARHGEF12",
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"hgvs_c": "c.2778+286G>A",
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"transcript": "XM_017017420.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "ARHGEF12",
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"hgvs_c": "c.2760+286G>A",
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"transcript": "XM_047426661.1",
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},
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],
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"gene_symbol": "ARHGEF12",
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},
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],
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"gene_symbol": "ARHGEF12",
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"hgvs_c": "c.2646+286G>A",
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"transcript": "XM_011542720.3",
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},
{
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],
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"gene_symbol": "ARHGEF12",
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"transcript": "XM_017017421.2",
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],
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"gene_symbol": "ARHGEF12",
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"hgvs_c": "c.2646+286G>A",
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"protein_id": "XP_047282619.1",
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},
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],
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"gene_symbol": "ARHGEF12",
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"hgvs_c": "c.2646+286G>A",
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"transcript": "XM_047426664.1",
"protein_id": "XP_047282620.1",
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},
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],
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],
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"gene_symbol": "ARHGEF12",
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},
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],
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},
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],
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"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2526+286G>A",
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"transcript": "XM_047426668.1",
"protein_id": "XP_047282624.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 28,
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"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.2526+286G>A",
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"transcript": "XM_047426669.1",
"protein_id": "XP_047282625.1",
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.78,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000397843.7",
"gene_symbol": "ARHGEF12",
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"effects": [
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"inheritance_mode": "AD",
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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
}