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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: 17-745992-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=745992&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 745992,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000319004.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2051G>T",
"hgvs_p": "p.Arg684Leu",
"transcript": "NM_015721.3",
"protein_id": "NP_056536.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2051,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000319004.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2051G>T",
"hgvs_p": "p.Arg684Leu",
"transcript": "ENST00000319004.6",
"protein_id": "ENSP00000321706.5",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2051,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_015721.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2018G>T",
"hgvs_p": "p.Arg673Leu",
"transcript": "ENST00000576778.1",
"protein_id": "ENSP00000459565.1",
"transcript_support_level": 6,
"aa_start": 673,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2018,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2063G>T",
"hgvs_p": "p.Arg688Leu",
"transcript": "XM_011523910.3",
"protein_id": "XP_011522212.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2063,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2751,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2063G>T",
"hgvs_p": "p.Arg688Leu",
"transcript": "XM_011523911.3",
"protein_id": "XP_011522213.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2063,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2063G>T",
"hgvs_p": "p.Arg688Leu",
"transcript": "XM_017024709.2",
"protein_id": "XP_016880198.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2063,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2063G>T",
"hgvs_p": "p.Arg688Leu",
"transcript": "XM_047436180.1",
"protein_id": "XP_047292136.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2063,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2841,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2018G>T",
"hgvs_p": "p.Arg673Leu",
"transcript": "XM_005256670.6",
"protein_id": "XP_005256727.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2018,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2018G>T",
"hgvs_p": "p.Arg673Leu",
"transcript": "XM_011523912.3",
"protein_id": "XP_011522214.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2018,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"hgvs_c": "c.2018G>T",
"hgvs_p": "p.Arg673Leu",
"transcript": "XM_011523913.3",
"protein_id": "XP_011522215.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2018,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GEMIN4",
"gene_hgnc_id": 15717,
"dbsnp": "rs3744741",
"frequency_reference_population": 6.84429e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84429e-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": 0.03776463866233826,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0667,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.502,
"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": "ENST00000319004.6",
"gene_symbol": "GEMIN4",
"hgnc_id": 15717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2051G>T",
"hgvs_p": "p.Arg684Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}