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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: 17-19414654-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19414654&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF112",
"hgnc_id": 12968,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ile334Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_007148.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1392,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"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": 0.08328545093536377,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 631,
"aa_ref": "I",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1002,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_007148.5",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ile334Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000461366.2",
"protein_coding": true,
"protein_id": "NP_009079.2",
"strand": true,
"transcript": "NM_007148.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 631,
"aa_ref": "I",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1002,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000461366.2",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ile334Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007148.5",
"protein_coding": true,
"protein_id": "ENSP00000454919.1",
"strand": true,
"transcript": "ENST00000461366.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 631,
"aa_ref": "I",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1002,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908744.1",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ile334Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578803.1",
"strand": true,
"transcript": "ENST00000908744.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 574,
"aa_ref": "I",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1725,
"cds_start": 831,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908743.1",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.831C>G",
"hgvs_p": "p.Ile277Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578802.1",
"strand": true,
"transcript": "ENST00000908743.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 639,
"aa_ref": "I",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1002,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_006721571.5",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ile334Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721634.1",
"strand": true,
"transcript": "XM_006721571.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 638,
"aa_ref": "I",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1917,
"cds_start": 999,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_006721572.5",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.999C>G",
"hgvs_p": "p.Ile333Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721635.1",
"strand": true,
"transcript": "XM_006721572.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 615,
"aa_ref": "I",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1848,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_006721573.3",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.930C>G",
"hgvs_p": "p.Ile310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721636.1",
"strand": true,
"transcript": "XM_006721573.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 607,
"aa_ref": "I",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1824,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047436666.1",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.930C>G",
"hgvs_p": "p.Ile310Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292622.1",
"strand": true,
"transcript": "XM_047436666.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 606,
"aa_ref": "I",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1821,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047436667.1",
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"hgvs_c": "c.927C>G",
"hgvs_p": "p.Ile309Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292623.1",
"strand": true,
"transcript": "XM_047436667.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12968,
"gene_symbol": "RNF112",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": -0.079,
"pos": 19414654,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_007148.5"
}
]
}