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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: 6-169704085-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169704085&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169704085,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018288.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1415G>T",
"hgvs_p": "p.Arg472Leu",
"transcript": "NM_018288.4",
"protein_id": "NP_060758.2",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 498,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339209.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018288.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1415G>T",
"hgvs_p": "p.Arg472Leu",
"transcript": "ENST00000339209.9",
"protein_id": "ENSP00000341805.4",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 498,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018288.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339209.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1274G>T",
"hgvs_p": "p.Arg425Leu",
"transcript": "ENST00000621772.4",
"protein_id": "ENSP00000484117.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 451,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621772.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf120",
"gene_hgnc_id": 21247,
"hgvs_c": "c.*1050C>A",
"hgvs_p": null,
"transcript": "NM_001029863.3",
"protein_id": "NP_001025034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000332290.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029863.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf120",
"gene_hgnc_id": 21247,
"hgvs_c": "c.*1050C>A",
"hgvs_p": null,
"transcript": "ENST00000332290.4",
"protein_id": "ENSP00000346931.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001029863.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332290.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1421G>T",
"hgvs_p": "p.Arg474Leu",
"transcript": "ENST00000885654.1",
"protein_id": "ENSP00000555713.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 500,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885654.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1409G>T",
"hgvs_p": "p.Arg470Leu",
"transcript": "NM_133325.3",
"protein_id": "NP_579866.2",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 496,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133325.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1409G>T",
"hgvs_p": "p.Arg470Leu",
"transcript": "ENST00000366780.8",
"protein_id": "ENSP00000355743.4",
"transcript_support_level": 5,
"aa_start": 470,
"aa_end": null,
"aa_length": 496,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366780.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1409G>T",
"hgvs_p": "p.Arg470Leu",
"transcript": "ENST00000885655.1",
"protein_id": "ENSP00000555714.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 496,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885655.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1400G>T",
"hgvs_p": "p.Arg467Leu",
"transcript": "ENST00000965605.1",
"protein_id": "ENSP00000635664.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 493,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965605.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1331G>T",
"hgvs_p": "p.Arg444Leu",
"transcript": "ENST00000885653.1",
"protein_id": "ENSP00000555712.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 470,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885653.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1259G>T",
"hgvs_p": "p.Arg420Leu",
"transcript": "ENST00000930217.1",
"protein_id": "ENSP00000600276.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 446,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930217.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"hgvs_c": "c.1226G>T",
"hgvs_p": "p.Arg409Leu",
"transcript": "ENST00000965606.1",
"protein_id": "ENSP00000635665.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 435,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C6orf120",
"gene_hgnc_id": 21247,
"hgvs_c": "c.*1050C>A",
"hgvs_p": null,
"transcript": "NM_001317342.2",
"protein_id": "NP_001304271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317342.2"
}
],
"gene_symbol": "PHF10",
"gene_hgnc_id": 18250,
"dbsnp": "rs148902304",
"frequency_reference_population": 0.0000014073902,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140739,
"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": 0.44642138481140137,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.577,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.176,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018288.4",
"gene_symbol": "PHF10",
"hgnc_id": 18250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1415G>T",
"hgvs_p": "p.Arg472Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001317342.2",
"gene_symbol": "C6orf120",
"hgnc_id": 21247,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1050C>A",
"hgvs_p": null
}
],
"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
}