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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: 13-24804338-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=24804338&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 24804338,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000255324.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.His667Arg",
"transcript": "NM_031277.3",
"protein_id": "NP_112567.2",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 1623,
"cds_start": 2000,
"cds_end": null,
"cds_length": 4872,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": "ENST00000255324.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.His667Arg",
"transcript": "ENST00000255324.10",
"protein_id": "ENSP00000255324.5",
"transcript_support_level": 2,
"aa_start": 667,
"aa_end": null,
"aa_length": 1623,
"cds_start": 2000,
"cds_end": null,
"cds_length": 4872,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": "NM_031277.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.His667Arg",
"transcript": "NM_001184993.2",
"protein_id": "NP_001171922.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 1619,
"cds_start": 2000,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535152.3",
"protein_id": "XP_011533454.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2081,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535155.3",
"protein_id": "XP_011533457.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2081,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535156.3",
"protein_id": "XP_011533458.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2081,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_047430486.1",
"protein_id": "XP_047286442.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1699,
"cds_start": 2081,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535157.3",
"protein_id": "XP_011533459.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1695,
"cds_start": 2081,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2060A>G",
"hgvs_p": "p.His687Arg",
"transcript": "XM_006719846.4",
"protein_id": "XP_006719909.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 1692,
"cds_start": 2060,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.His667Arg",
"transcript": "XM_006719849.3",
"protein_id": "XP_006719912.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 1672,
"cds_start": 2000,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535158.3",
"protein_id": "XP_011533460.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1657,
"cds_start": 2081,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 6922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535159.3",
"protein_id": "XP_011533461.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1650,
"cds_start": 2081,
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"cds_length": 4953,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.His694Arg",
"transcript": "XM_011535160.3",
"protein_id": "XP_011533462.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1646,
"cds_start": 2081,
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"cds_length": 4941,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 6889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.His606Arg",
"transcript": "XM_017020676.2",
"protein_id": "XP_016876165.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 1611,
"cds_start": 1817,
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"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 5216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.1577A>G",
"hgvs_p": "p.His526Arg",
"transcript": "XM_047430488.1",
"protein_id": "XP_047286444.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1577,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.His493Arg",
"transcript": "XM_011535162.2",
"protein_id": "XP_011533464.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1498,
"cds_start": 1478,
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"cds_length": 4497,
"cdna_start": 1576,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.His256Arg",
"transcript": "XM_011535163.2",
"protein_id": "XP_011533465.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1261,
"cds_start": 767,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.-29A>G",
"hgvs_p": null,
"transcript": "ENST00000418120.5",
"protein_id": "ENSP00000388892.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.1949+1767A>G",
"hgvs_p": null,
"transcript": "ENST00000255325.6",
"protein_id": "ENSP00000255325.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
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"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"dbsnp": "rs9511451",
"frequency_reference_population": 0.26811045,
"hom_count_reference_population": 60336,
"allele_count_reference_population": 431564,
"gnomad_exomes_af": 0.272019,
"gnomad_genomes_af": 0.230674,
"gnomad_exomes_ac": 396466,
"gnomad_genomes_ac": 35098,
"gnomad_exomes_homalt": 55811,
"gnomad_genomes_homalt": 4525,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003488481044769287,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0607,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.246,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000255324.10",
"gene_symbol": "RNF17",
"hgnc_id": 10060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.His667Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}