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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: 8-99999357-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=99999357&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 99999357,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015668.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "NM_015668.5",
"protein_id": "NP_056483.3",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2854,
"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": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "ENST00000360863.11",
"protein_id": "ENSP00000354109.6",
"transcript_support_level": 1,
"aa_start": 952,
"aa_end": null,
"aa_length": 1264,
"cds_start": 2854,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2818G>A",
"hgvs_p": "p.Val940Ile",
"transcript": "ENST00000523437.5",
"protein_id": "ENSP00000428212.1",
"transcript_support_level": 1,
"aa_start": 940,
"aa_end": null,
"aa_length": 1252,
"cds_start": 2818,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2818G>A",
"hgvs_p": "p.Val940Ile",
"transcript": "NM_001286692.2",
"protein_id": "NP_001273621.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1252,
"cds_start": 2818,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2311G>A",
"hgvs_p": "p.Val771Ile",
"transcript": "NM_001286693.2",
"protein_id": "NP_001273622.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2311,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2311G>A",
"hgvs_p": "p.Val771Ile",
"transcript": "ENST00000523287.5",
"protein_id": "ENSP00000429382.1",
"transcript_support_level": 2,
"aa_start": 771,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2311,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.1282G>A",
"hgvs_p": "p.Val428Ile",
"transcript": "ENST00000955932.1",
"protein_id": "ENSP00000625991.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 740,
"cds_start": 1282,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "ENST00000517828.5",
"protein_id": "ENSP00000427754.1",
"transcript_support_level": 3,
"aa_start": 267,
"aa_end": null,
"aa_length": 268,
"cds_start": 799,
"cds_end": null,
"cds_length": 809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517828.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "XM_005250857.4",
"protein_id": "XP_005250914.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2854,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "XM_005250858.4",
"protein_id": "XP_005250915.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2854,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2566G>A",
"hgvs_p": "p.Val856Ile",
"transcript": "XM_047421679.1",
"protein_id": "XP_047277635.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2566,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "XM_047421681.1",
"protein_id": "XP_047277637.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2854,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Val497Ile",
"transcript": "XM_017013311.2",
"protein_id": "XP_016868800.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 809,
"cds_start": 1489,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Val341Ile",
"transcript": "XM_024447121.2",
"protein_id": "XP_024302889.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 653,
"cds_start": 1021,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2791-2827G>A",
"hgvs_p": null,
"transcript": "ENST00000870307.1",
"protein_id": "ENSP00000540366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2791-2827G>A",
"hgvs_p": null,
"transcript": "XM_005250856.4",
"protein_id": "XP_005250913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": null,
"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": 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": 18,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2791-2827G>A",
"hgvs_p": null,
"transcript": "XM_017013309.3",
"protein_id": "XP_016868798.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": null,
"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": 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": 18,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "c.2791-2827G>A",
"hgvs_p": null,
"transcript": "XM_017013310.3",
"protein_id": "XP_016868799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1157,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS22",
"gene_hgnc_id": 24499,
"hgvs_c": "n.1082G>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": null,
"frequency_reference_population": 0.0000013682717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136827,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018514007329940796,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0762,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.786,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015668.5",
"gene_symbol": "RGS22",
"hgnc_id": 24499,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}