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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: 17-7235986-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7235986&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7235986,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024297.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Ala314Gly",
"transcript": "NM_024297.3",
"protein_id": "NP_077273.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 403,
"cds_start": 941,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320316.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024297.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Ala314Gly",
"transcript": "ENST00000320316.8",
"protein_id": "ENSP00000322579.3",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 403,
"cds_start": 941,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024297.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320316.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Ala310Gly",
"transcript": "NM_001284518.2",
"protein_id": "NP_001271447.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 399,
"cds_start": 929,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284518.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.929C>G",
"hgvs_p": "p.Ala310Gly",
"transcript": "ENST00000454255.6",
"protein_id": "ENSP00000414607.2",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 399,
"cds_start": 929,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454255.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "NM_001284517.2",
"protein_id": "NP_001271446.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 336,
"cds_start": 740,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284517.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Ala247Gly",
"transcript": "ENST00000571362.5",
"protein_id": "ENSP00000460738.1",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 336,
"cds_start": 740,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571362.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "ENST00000576955.5",
"protein_id": "ENSP00000458953.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 273,
"cds_start": 551,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576955.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "ENST00000572789.5",
"protein_id": "ENSP00000460876.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 200,
"cds_start": 551,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572789.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.953C>G",
"hgvs_p": "p.Ala318Gly",
"transcript": "XM_024450938.2",
"protein_id": "XP_024306706.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 407,
"cds_start": 953,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450938.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.752C>G",
"hgvs_p": "p.Ala251Gly",
"transcript": "XM_047436728.1",
"protein_id": "XP_047292684.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 340,
"cds_start": 752,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436728.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "XM_024450939.2",
"protein_id": "XP_024306707.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 273,
"cds_start": 551,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450939.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "XM_024450940.2",
"protein_id": "XP_024306708.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 273,
"cds_start": 551,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450940.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "XM_024450942.2",
"protein_id": "XP_024306710.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 273,
"cds_start": 551,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450942.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "XM_047436729.1",
"protein_id": "XP_047292685.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 273,
"cds_start": 551,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436729.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Ala184Gly",
"transcript": "XM_047436730.1",
"protein_id": "XP_047292686.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 273,
"cds_start": 551,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF23",
"gene_hgnc_id": 28428,
"hgvs_c": "c.*102C>G",
"hgvs_p": null,
"transcript": "ENST00000613632.4",
"protein_id": "ENSP00000479592.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613632.4"
}
],
"gene_symbol": "PHF23",
"gene_hgnc_id": 28428,
"dbsnp": "rs1238467742",
"frequency_reference_population": 6.843784e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84378e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03856310248374939,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.391,
"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": "NM_024297.3",
"gene_symbol": "PHF23",
"hgnc_id": 28428,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Ala314Gly"
}
],
"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
}