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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: 1-9601214-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=9601214&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 9601214,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000340381.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "NM_001130924.3",
"protein_id": "NP_001124396.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 666,
"cds_start": 716,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": "ENST00000340381.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "ENST00000340381.11",
"protein_id": "ENSP00000344503.6",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 666,
"cds_start": 716,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": "NM_001130924.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.His148Arg",
"transcript": "ENST00000416541.5",
"protein_id": "ENSP00000393626.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 551,
"cds_start": 443,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "ENST00000340305.9",
"protein_id": "ENSP00000344772.5",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 392,
"cds_start": 716,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "NM_001010866.4",
"protein_id": "NP_001010866.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 392,
"cds_start": 716,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "XM_017000549.2",
"protein_id": "XP_016856038.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 765,
"cds_start": 716,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "XM_017000550.2",
"protein_id": "XP_016856039.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 741,
"cds_start": 716,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.His201Arg",
"transcript": "XM_017000551.3",
"protein_id": "XP_016856040.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 727,
"cds_start": 602,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.His201Arg",
"transcript": "XM_017000552.3",
"protein_id": "XP_016856041.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 727,
"cds_start": 602,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "XM_006710417.4",
"protein_id": "XP_006710480.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 642,
"cds_start": 716,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "XM_047448441.1",
"protein_id": "XP_047304397.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 609,
"cds_start": 716,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "XM_011540910.3",
"protein_id": "XP_011539212.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 392,
"cds_start": 716,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM201",
"gene_hgnc_id": 33719,
"dbsnp": "rs146348596",
"frequency_reference_population": 0.000040934854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000205478,
"gnomad_genomes_af": 0.000236366,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 36,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02633926272392273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0645,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.569,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000340381.11",
"gene_symbol": "TMEM201",
"hgnc_id": 33719,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg"
}
],
"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
}