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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: 17-10725047-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=10725047&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 10725047,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001004313.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "NM_001004313.3",
"protein_id": "NP_001004313.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 160,
"cds_start": 251,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341871.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004313.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "ENST00000341871.8",
"protein_id": "ENSP00000339830.4",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 160,
"cds_start": 251,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004313.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341871.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74His",
"transcript": "ENST00000455996.6",
"protein_id": "ENSP00000396973.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 150,
"cds_start": 221,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455996.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Arg109His",
"transcript": "ENST00000857803.1",
"protein_id": "ENSP00000527862.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 185,
"cds_start": 326,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857803.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99His",
"transcript": "ENST00000857804.1",
"protein_id": "ENSP00000527863.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 175,
"cds_start": 296,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857804.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "ENST00000857806.1",
"protein_id": "ENSP00000527865.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 172,
"cds_start": 251,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857806.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89His",
"transcript": "ENST00000857805.1",
"protein_id": "ENSP00000527864.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 165,
"cds_start": 266,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857805.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Arg83His",
"transcript": "ENST00000857808.1",
"protein_id": "ENSP00000527867.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 159,
"cds_start": 248,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857808.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Arg79His",
"transcript": "ENST00000857807.1",
"protein_id": "ENSP00000527866.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 155,
"cds_start": 236,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857807.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74His",
"transcript": "NM_001359647.2",
"protein_id": "NP_001346576.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 154,
"cds_start": 221,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001359647.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74His",
"transcript": "NM_001330139.3",
"protein_id": "NP_001317068.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 150,
"cds_start": 221,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330139.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "ENST00000857802.1",
"protein_id": "ENSP00000527861.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 140,
"cds_start": 251,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857802.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74His",
"transcript": "NM_001330140.3",
"protein_id": "NP_001317069.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 130,
"cds_start": 221,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330140.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74His",
"transcript": "ENST00000578345.1",
"protein_id": "ENSP00000462723.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 130,
"cds_start": 221,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578345.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Arg24His",
"transcript": "ENST00000581949.1",
"protein_id": "ENSP00000464189.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 116,
"cds_start": 71,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581949.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29His",
"transcript": "ENST00000580787.5",
"protein_id": "ENSP00000462490.2",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 85,
"cds_start": 86,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580787.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "XM_017024616.2",
"protein_id": "XP_016880105.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 164,
"cds_start": 251,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024616.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.221G>A",
"hgvs_p": "p.Arg74His",
"transcript": "XM_047435960.1",
"protein_id": "XP_047291916.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 157,
"cds_start": 221,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435960.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "XM_011523835.3",
"protein_id": "XP_011522137.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 140,
"cds_start": 251,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523835.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"hgvs_c": "n.250G>A",
"hgvs_p": null,
"transcript": "ENST00000580186.1",
"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": "pseudogene",
"feature": "ENST00000580186.1"
}
],
"gene_symbol": "TMEM220",
"gene_hgnc_id": 33757,
"dbsnp": "rs79737146",
"frequency_reference_population": 0.00070939213,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1145,
"gnomad_exomes_af": 0.000682002,
"gnomad_genomes_af": 0.000972494,
"gnomad_exomes_ac": 997,
"gnomad_genomes_ac": 148,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0032854080200195312,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.865,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001004313.3",
"gene_symbol": "TMEM220",
"hgnc_id": 33757,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}