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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: 17-19412526-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19412526&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19412526,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007148.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "NM_007148.5",
"protein_id": "NP_009079.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 631,
"cds_start": 124,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000461366.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007148.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "ENST00000461366.2",
"protein_id": "ENSP00000454919.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 631,
"cds_start": 124,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007148.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461366.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "ENST00000908744.1",
"protein_id": "ENSP00000578803.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 631,
"cds_start": 124,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908744.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "ENST00000908743.1",
"protein_id": "ENSP00000578802.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 574,
"cds_start": 124,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908743.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "ENST00000575165.6",
"protein_id": "ENSP00000464134.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 122,
"cds_start": 124,
"cds_end": null,
"cds_length": 370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575165.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "XM_006721571.5",
"protein_id": "XP_006721634.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 639,
"cds_start": 124,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721571.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile",
"transcript": "XM_006721572.5",
"protein_id": "XP_006721635.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 638,
"cds_start": 124,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721572.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.52C>A",
"hgvs_p": "p.Leu18Ile",
"transcript": "XM_006721573.3",
"protein_id": "XP_006721636.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 615,
"cds_start": 52,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721573.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.52C>A",
"hgvs_p": "p.Leu18Ile",
"transcript": "XM_047436666.1",
"protein_id": "XP_047292622.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 607,
"cds_start": 52,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436666.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "c.52C>A",
"hgvs_p": "p.Leu18Ile",
"transcript": "XM_047436667.1",
"protein_id": "XP_047292623.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 606,
"cds_start": 52,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "n.355C>A",
"hgvs_p": null,
"transcript": "ENST00000574149.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574149.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"hgvs_c": "n.171C>A",
"hgvs_p": null,
"transcript": "ENST00000580109.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000580109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000265126",
"gene_hgnc_id": 58560,
"hgvs_c": "n.575+44G>T",
"hgvs_p": null,
"transcript": "ENST00000579897.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000579897.2"
}
],
"gene_symbol": "RNF112",
"gene_hgnc_id": 12968,
"dbsnp": "rs375545681",
"frequency_reference_population": 0.00018471663,
"hom_count_reference_population": 0,
"allele_count_reference_population": 298,
"gnomad_exomes_af": 0.000190253,
"gnomad_genomes_af": 0.00013152,
"gnomad_exomes_ac": 278,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19185346364974976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1151,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.261,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007148.5",
"gene_symbol": "RNF112",
"hgnc_id": 12968,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.124C>A",
"hgvs_p": "p.Leu42Ile"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000579897.2",
"gene_symbol": "ENSG00000265126",
"hgnc_id": 58560,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.575+44G>T",
"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
}