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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: 4-3429468-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=3429468&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 3429468,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000336727.8",
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "NM_001394154.1",
"protein_id": "NP_001381083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": -4,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "ENST00000336727.8",
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "ENST00000336727.8",
"protein_id": "ENSP00000338509.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": -4,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "NM_001394154.1",
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "ENST00000344733.9",
"protein_id": "ENSP00000339381.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": -4,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5469,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "ENST00000382788.7",
"protein_id": "ENSP00000372238.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1376,
"cds_start": -4,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5512,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.1621+757A>G",
"hgvs_p": null,
"transcript": "ENST00000338806.4",
"protein_id": "ENSP00000342133.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3010,
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "n.2522+757A>G",
"hgvs_p": null,
"transcript": "ENST00000504194.5",
"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": 3522,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "NM_001394155.1",
"protein_id": "NP_001381084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": -4,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4859,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "NM_198229.3",
"protein_id": "NP_937872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": -4,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4813,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "NM_001394156.1",
"protein_id": "NP_001381085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1376,
"cds_start": -4,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5511,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "NM_002926.5",
"protein_id": "NP_002917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1376,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3529-939A>G",
"hgvs_p": null,
"transcript": "NM_001394157.1",
"protein_id": "NP_001381086.1",
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3412-939A>G",
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"transcript": "NM_001394158.1",
"protein_id": "NP_001381087.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 14,
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"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.1621+757A>G",
"hgvs_p": null,
"transcript": "NM_198227.2",
"protein_id": "NP_937870.1",
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"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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"gene_symbol": "RGS12",
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"hgvs_c": "c.1162+757A>G",
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"transcript": "NM_001394161.1",
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},
{
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],
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"gene_symbol": "RGS12",
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"hgvs_c": "c.1162+757A>G",
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"transcript": "NM_001394162.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "RGS12",
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"hgvs_c": "c.1162+757A>G",
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"transcript": "NM_001394163.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "RGS12",
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"hgvs_c": "n.415-939A>G",
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"transcript": "ENST00000507041.5",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "n.81+1299A>G",
"hgvs_p": null,
"transcript": "ENST00000509772.1",
"protein_id": null,
"transcript_support_level": 3,
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},
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.3565+757A>G",
"hgvs_p": null,
"transcript": "XM_017008529.3",
"protein_id": "XP_016864018.1",
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],
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"gene_symbol": "RGS12",
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},
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],
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"gene_symbol": "RGS12",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.1162+757A>G",
"hgvs_p": null,
"transcript": "XM_047416058.1",
"protein_id": "XP_047272014.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RGS12",
"gene_hgnc_id": 9994,
"hgvs_c": "c.1162+757A>G",
"hgvs_p": null,
"transcript": "XM_047416059.1",
"protein_id": "XP_047272015.1",
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},
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{
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],
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"gnomad_genomes_ac": 7617,
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.88,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000336727.8",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}