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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: 19-17863002-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17863002&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17863002,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000980.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "NM_000980.4",
"protein_id": "NP_000971.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 176,
"cds_start": 413,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222247.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000980.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "ENST00000222247.10",
"protein_id": "ENSP00000222247.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 176,
"cds_start": 413,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000980.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222247.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136His",
"transcript": "ENST00000916998.1",
"protein_id": "ENSP00000587057.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 174,
"cds_start": 407,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916998.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "ENST00000917001.1",
"protein_id": "ENSP00000587060.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 173,
"cds_start": 413,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917001.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "ENST00000917002.1",
"protein_id": "ENSP00000587061.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 171,
"cds_start": 413,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917002.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"transcript": "ENST00000917005.1",
"protein_id": "ENSP00000587064.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 168,
"cds_start": 389,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917005.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Arg128His",
"transcript": "ENST00000917003.1",
"protein_id": "ENSP00000587062.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 166,
"cds_start": 383,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917003.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "ENST00000600147.5",
"protein_id": "ENSP00000471584.1",
"transcript_support_level": 5,
"aa_start": 138,
"aa_end": null,
"aa_length": 154,
"cds_start": 413,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600147.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Arg109His",
"transcript": "ENST00000599870.1",
"protein_id": "ENSP00000471748.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 147,
"cds_start": 326,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599870.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.326G>A",
"hgvs_p": "p.Arg109His",
"transcript": "ENST00000597648.5",
"protein_id": "ENSP00000473155.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 140,
"cds_start": 326,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597648.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99His",
"transcript": "ENST00000599898.5",
"protein_id": "ENSP00000471360.1",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 137,
"cds_start": 296,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599898.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000916999.1",
"protein_id": "ENSP00000587058.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 132,
"cds_start": 281,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916999.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000878958.1",
"protein_id": "ENSP00000549017.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 116,
"cds_start": 233,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878958.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Arg70His",
"transcript": "ENST00000917006.1",
"protein_id": "ENSP00000587065.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 108,
"cds_start": 209,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917006.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64His",
"transcript": "ENST00000917000.1",
"protein_id": "ENSP00000587059.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 102,
"cds_start": 191,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917000.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Arg12His",
"transcript": "ENST00000917004.1",
"protein_id": "ENSP00000587063.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 50,
"cds_start": 35,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"hgvs_c": "n.*95G>A",
"hgvs_p": null,
"transcript": "ENST00000600238.1",
"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": "ENST00000600238.1"
}
],
"gene_symbol": "RPL18A",
"gene_hgnc_id": 10311,
"dbsnp": "rs138798482",
"frequency_reference_population": 0.000008065717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000753652,
"gnomad_genomes_af": 0.0000131406,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8077372908592224,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.742,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.862,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000980.4",
"gene_symbol": "RPL18A",
"hgnc_id": 10311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His"
}
],
"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
}