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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: 8-99965339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=99965339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 99965339,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015668.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3611G>A",
"hgvs_p": "p.Arg1204Gln",
"transcript": "NM_015668.5",
"protein_id": "NP_056483.3",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360863.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015668.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3611G>A",
"hgvs_p": "p.Arg1204Gln",
"transcript": "ENST00000360863.11",
"protein_id": "ENSP00000354109.6",
"transcript_support_level": 1,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015668.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360863.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192Gln",
"transcript": "ENST00000523437.5",
"protein_id": "ENSP00000428212.1",
"transcript_support_level": 1,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1252,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523437.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192Gln",
"transcript": "NM_001286692.2",
"protein_id": "NP_001273621.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1252,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286692.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3452G>A",
"hgvs_p": "p.Arg1151Gln",
"transcript": "ENST00000870307.1",
"protein_id": "ENSP00000540366.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870307.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3068G>A",
"hgvs_p": "p.Arg1023Gln",
"transcript": "NM_001286693.2",
"protein_id": "NP_001273622.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3068,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286693.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3068G>A",
"hgvs_p": "p.Arg1023Gln",
"transcript": "ENST00000523287.5",
"protein_id": "ENSP00000429382.1",
"transcript_support_level": 2,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3068,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523287.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680Gln",
"transcript": "ENST00000955932.1",
"protein_id": "ENSP00000625991.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 740,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955932.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76Gln",
"transcript": "ENST00000517843.5",
"protein_id": "ENSP00000430378.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 111,
"cds_start": 227,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517843.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3452G>A",
"hgvs_p": "p.Arg1151Gln",
"transcript": "XM_005250856.4",
"protein_id": "XP_005250913.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250856.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3452G>A",
"hgvs_p": "p.Arg1151Gln",
"transcript": "XM_005250857.4",
"protein_id": "XP_005250914.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250857.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3449G>A",
"hgvs_p": "p.Arg1150Gln",
"transcript": "XM_005250858.4",
"protein_id": "XP_005250915.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3449,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250858.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3323G>A",
"hgvs_p": "p.Arg1108Gln",
"transcript": "XM_047421679.1",
"protein_id": "XP_047277635.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3323,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421679.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098Gln",
"transcript": "XM_017013309.3",
"protein_id": "XP_016868798.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013309.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097Gln",
"transcript": "XM_017013310.3",
"protein_id": "XP_016868799.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3290,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013310.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Arg1097Gln",
"transcript": "XM_047421681.1",
"protein_id": "XP_047277637.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3290,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421681.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2246G>A",
"hgvs_p": "p.Arg749Gln",
"transcript": "XM_017013311.2",
"protein_id": "XP_016868800.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 809,
"cds_start": 2246,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013311.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Gln",
"transcript": "XM_024447121.2",
"protein_id": "XP_024302889.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 653,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447121.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "n.1839G>A",
"hgvs_p": null,
"transcript": "ENST00000517769.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000517769.5"
}
],
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"dbsnp": "rs760451465",
"frequency_reference_population": 0.00001986857,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000212557,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13429978489875793,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.026,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015668.5",
"gene_symbol": "RGS22",
"hgnc_id": 24499,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3611G>A",
"hgvs_p": "p.Arg1204Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}