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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: 13-24789388-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=24789388&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 24789388,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031277.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "NM_031277.3",
"protein_id": "NP_112567.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1623,
"cds_start": 824,
"cds_end": null,
"cds_length": 4872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255324.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031277.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000255324.10",
"protein_id": "ENSP00000255324.5",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 1623,
"cds_start": 824,
"cds_end": null,
"cds_length": 4872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031277.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255324.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "NM_001184993.2",
"protein_id": "NP_001171922.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1619,
"cds_start": 824,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184993.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000255325.6",
"protein_id": "ENSP00000255325.6",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 653,
"cds_start": 824,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255325.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535152.3",
"protein_id": "XP_011533454.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1699,
"cds_start": 905,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535152.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535155.3",
"protein_id": "XP_011533457.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1699,
"cds_start": 905,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535155.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535156.3",
"protein_id": "XP_011533458.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1699,
"cds_start": 905,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535156.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_047430486.1",
"protein_id": "XP_047286442.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1699,
"cds_start": 905,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430486.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535157.3",
"protein_id": "XP_011533459.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1695,
"cds_start": 905,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535157.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.884C>T",
"hgvs_p": "p.Ala295Val",
"transcript": "XM_006719846.4",
"protein_id": "XP_006719909.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1692,
"cds_start": 884,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719846.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "XM_006719849.3",
"protein_id": "XP_006719912.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1672,
"cds_start": 824,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719849.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535158.3",
"protein_id": "XP_011533460.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1657,
"cds_start": 905,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535158.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535159.3",
"protein_id": "XP_011533461.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1650,
"cds_start": 905,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535159.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "XM_011535160.3",
"protein_id": "XP_011533462.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1646,
"cds_start": 905,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535160.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ala214Val",
"transcript": "XM_017020676.2",
"protein_id": "XP_016876165.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1611,
"cds_start": 641,
"cds_end": null,
"cds_length": 4836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020676.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"transcript": "XM_047430488.1",
"protein_id": "XP_047286444.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 1531,
"cds_start": 401,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430488.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "XM_011535162.2",
"protein_id": "XP_011533464.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 1498,
"cds_start": 302,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535162.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "n.827C>T",
"hgvs_p": null,
"transcript": "ENST00000255326.4",
"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": "pseudogene",
"feature": "ENST00000255326.4"
}
],
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"dbsnp": "rs1883554340",
"frequency_reference_population": 6.8813273e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88133e-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": 0.06728634238243103,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.1025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.045,
"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": "NM_031277.3",
"gene_symbol": "RNF17",
"hgnc_id": 10060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val"
}
],
"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
}