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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: 8-100073550-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100073550&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100073550,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000360863.11",
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "NM_015668.5",
"protein_id": "NP_056483.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": "ENST00000360863.11",
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "ENST00000360863.11",
"protein_id": "ENSP00000354109.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": "NM_015668.5",
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "ENST00000523437.5",
"protein_id": "ENSP00000428212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1252,
"cds_start": -4,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "n.340-1320C>A",
"hgvs_p": null,
"transcript": "ENST00000519725.5",
"protein_id": "ENSP00000427798.1",
"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": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "n.142-1320C>A",
"hgvs_p": null,
"transcript": "ENST00000520923.5",
"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": 2379,
"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": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "NM_001286692.2",
"protein_id": "NP_001273621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1252,
"cds_start": -4,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4193,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.51+6584C>A",
"hgvs_p": null,
"transcript": "NM_001286693.2",
"protein_id": "NP_001273622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": -4,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4155,
"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": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.51+6584C>A",
"hgvs_p": null,
"transcript": "ENST00000523287.5",
"protein_id": "ENSP00000429382.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": -4,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4033,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.111+19897C>A",
"hgvs_p": null,
"transcript": "ENST00000517828.5",
"protein_id": "ENSP00000427754.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 809,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.97-1320C>A",
"hgvs_p": null,
"transcript": "ENST00000520117.5",
"protein_id": "ENSP00000429198.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 513,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.52-1320C>A",
"hgvs_p": null,
"transcript": "ENST00000519092.5",
"protein_id": "ENSP00000430903.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": -4,
"cds_end": null,
"cds_length": 265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"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": 6,
"intron_rank": 4,
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"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.52-1320C>A",
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"transcript": "ENST00000519408.5",
"protein_id": "ENSP00000427930.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": 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": 27,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "XM_005250856.4",
"protein_id": "XP_005250913.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 4,
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"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
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"transcript": "XM_005250857.4",
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},
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],
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"gene_symbol": "RGS22",
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"hgvs_c": "c.340-1320C>A",
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"transcript": "XM_005250858.4",
"protein_id": "XP_005250915.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.52-1320C>A",
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"transcript": "XM_047421679.1",
"protein_id": "XP_047277635.1",
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},
{
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],
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"gene_symbol": "RGS22",
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"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "XM_017013309.3",
"protein_id": "XP_016868798.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "XM_017013310.3",
"protein_id": "XP_016868799.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 4,
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"gene_symbol": "RGS22",
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"hgvs_c": "c.340-1320C>A",
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"transcript": "XM_047421681.1",
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},
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],
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"gene_symbol": "RGS22",
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"hgvs_c": "c.340-1320C>A",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
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"transcript": "XM_011516959.4",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null,
"transcript": "XM_047421682.1",
"protein_id": "XP_047277638.1",
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"aa_start": null,
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"aa_length": 634,
"cds_start": -4,
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"cds_length": 1905,
"cdna_start": null,
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"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"dbsnp": "rs1380994",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.124,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000360863.11",
"gene_symbol": "RGS22",
"hgnc_id": 24499,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.340-1320C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}