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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: 17-7236244-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7236244&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF23",
"hgnc_id": 28428,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_024297.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 80,
"alphamissense_prediction": null,
"alphamissense_score": 0.1733,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04925507307052612,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1212,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_024297.3",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320316.8",
"protein_coding": true,
"protein_id": "NP_077273.2",
"strand": false,
"transcript": "NM_024297.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1212,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000320316.8",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024297.3",
"protein_coding": true,
"protein_id": "ENSP00000322579.3",
"strand": false,
"transcript": "ENST00000320316.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1200,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001284518.2",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271447.1",
"strand": false,
"transcript": "NM_001284518.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 399,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1200,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000454255.6",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414607.2",
"strand": false,
"transcript": "ENST00000454255.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1011,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001284517.2",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271446.1",
"strand": false,
"transcript": "NM_001284517.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1011,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000571362.5",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460738.1",
"strand": false,
"transcript": "ENST00000571362.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 827,
"cds_end": null,
"cds_length": 822,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000576955.5",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458953.1",
"strand": false,
"transcript": "ENST00000576955.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 200,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 696,
"cds_end": null,
"cds_length": 603,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000572789.5",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460876.1",
"strand": false,
"transcript": "ENST00000572789.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 407,
"aa_ref": "R",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 1224,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450938.2",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306706.1",
"strand": false,
"transcript": "XM_024450938.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 340,
"aa_ref": "R",
"aa_start": 165,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1023,
"cds_start": 494,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047436728.1",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Arg165Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292684.1",
"strand": false,
"transcript": "XM_047436728.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 846,
"cds_end": null,
"cds_length": 822,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450939.2",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306707.1",
"strand": false,
"transcript": "XM_024450939.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 683,
"cds_end": null,
"cds_length": 822,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450940.2",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306708.1",
"strand": false,
"transcript": "XM_024450940.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 673,
"cds_end": null,
"cds_length": 822,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450942.2",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306710.1",
"strand": false,
"transcript": "XM_024450942.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 690,
"cds_end": null,
"cds_length": 822,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047436729.1",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292685.1",
"strand": false,
"transcript": "XM_047436729.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 672,
"cds_end": null,
"cds_length": 822,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047436730.1",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292686.1",
"strand": false,
"transcript": "XM_047436730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 158,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": null,
"cds_end": null,
"cds_length": 477,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613632.4",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.447-126G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479592.1",
"strand": false,
"transcript": "ENST00000613632.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 685,
"cdna_start": null,
"cds_end": null,
"cds_length": 610,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000573826.5",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.*46G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461442.1",
"strand": true,
"transcript": "ENST00000573826.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 185,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": 558,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000570899.1",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.*137G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458416.1",
"strand": true,
"transcript": "ENST00000570899.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 58,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": null,
"cds_end": null,
"cds_length": 178,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574323.5",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.*115G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459983.1",
"strand": true,
"transcript": "ENST00000574323.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 35,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": 108,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574236.5",
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"hgvs_c": "c.*185G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458401.1",
"strand": true,
"transcript": "ENST00000574236.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs374283851",
"effect": "missense_variant",
"frequency_reference_population": 0.000049582268,
"gene_hgnc_id": 28428,
"gene_symbol": "PHF23",
"gnomad_exomes_ac": 73,
"gnomad_exomes_af": 0.0000499604,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459553,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.936,
"pos": 7236244,
"ref": "C",
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"transcript": "NM_024297.3"
}
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}