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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: 1-163171701-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=163171701&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 163171701,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000313961.10",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.45-3333G>A",
"hgvs_p": null,
"transcript": "NM_003617.4",
"protein_id": "NP_003608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": "ENST00000313961.10",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.45-3333G>A",
"hgvs_p": null,
"transcript": "ENST00000313961.10",
"protein_id": "ENSP00000319308.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": "NM_003617.4",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.-107-18985G>A",
"hgvs_p": null,
"transcript": "ENST00000527988.1",
"protein_id": "ENSP00000432313.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": -4,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 373,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.104+857G>A",
"hgvs_p": null,
"transcript": "ENST00000367903.7",
"protein_id": "ENSP00000356879.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 934,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.66-3333G>A",
"hgvs_p": null,
"transcript": "NM_001414472.1",
"protein_id": "NP_001401401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5825,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.66-3333G>A",
"hgvs_p": null,
"transcript": "NM_001414473.1",
"protein_id": "NP_001401402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6023,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.66-3333G>A",
"hgvs_p": null,
"transcript": "NM_001414474.1",
"protein_id": "NP_001401403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5913,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.66-3333G>A",
"hgvs_p": null,
"transcript": "NM_001414475.1",
"protein_id": "NP_001401404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5935,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.45-3333G>A",
"hgvs_p": null,
"transcript": "NM_001254749.2",
"protein_id": "NP_001241678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5682,
"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": 5,
"intron_rank": 1,
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"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.45-3333G>A",
"hgvs_p": null,
"transcript": "ENST00000530507.5",
"protein_id": "ENSP00000433001.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
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"cds_length": 558,
"cdna_start": null,
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"cdna_length": 851,
"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,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.3-3333G>A",
"hgvs_p": null,
"transcript": "NM_001414476.1",
"protein_id": "NP_001401405.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "RGS5",
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"hgvs_c": "c.-107-18985G>A",
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"transcript": "NM_001195303.3",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RGS5",
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"hgvs_c": "c.-280-3333G>A",
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"transcript": "NM_001254748.2",
"protein_id": "NP_001241677.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "RGS5",
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"hgvs_c": "c.-280-3333G>A",
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"transcript": "NM_001414477.1",
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},
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],
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"transcript": "NM_001414478.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "RGS5",
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"hgvs_c": "c.-280-3333G>A",
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"transcript": "NM_001414479.1",
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},
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],
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"transcript": "ENST00000618415.4",
"protein_id": "ENSP00000480891.1",
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},
{
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "c.45-9725G>A",
"hgvs_p": null,
"transcript": "ENST00000531476.1",
"protein_id": "ENSP00000435861.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGS5-AS1",
"gene_hgnc_id": 40504,
"hgvs_c": "n.258+8825C>T",
"hgvs_p": null,
"transcript": "ENST00000415437.1",
"protein_id": null,
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},
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],
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"intron_rank": 4,
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},
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],
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},
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],
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"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "n.297-3333G>A",
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"transcript": "ENST00000530241.5",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RGS5",
"gene_hgnc_id": 10001,
"hgvs_c": "n.212-3333G>A",
"hgvs_p": null,
"transcript": "ENST00000531954.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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{
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],
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000313961.10",
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"effects": [
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"inheritance_mode": "Unknown",
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{
"score": -12,
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"BA1"
],
"verdict": "Benign",
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"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}