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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: 19-10320707-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10320707&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10320707,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_133452.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His",
"transcript": "NM_133452.3",
"protein_id": "NP_597709.3",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 739,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617231.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133452.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His",
"transcript": "ENST00000617231.5",
"protein_id": "ENSP00000482277.1",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 739,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133452.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617231.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "n.2952G>A",
"hgvs_p": null,
"transcript": "ENST00000592208.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000592208.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598His",
"transcript": "ENST00000910906.1",
"protein_id": "ENSP00000580965.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 764,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910906.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587His",
"transcript": "ENST00000910904.1",
"protein_id": "ENSP00000580963.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 753,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910904.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Arg572His",
"transcript": "ENST00000910894.1",
"protein_id": "ENSP00000580954.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 738,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910894.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Arg572His",
"transcript": "ENST00000911330.1",
"protein_id": "ENSP00000581389.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 738,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911330.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1703G>A",
"hgvs_p": "p.Arg568His",
"transcript": "ENST00000910898.1",
"protein_id": "ENSP00000580957.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 734,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910898.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548His",
"transcript": "NM_001366174.1",
"protein_id": "NP_001353103.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 714,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366174.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His",
"transcript": "ENST00000910893.1",
"protein_id": "ENSP00000580951.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 691,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910893.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Arg572His",
"transcript": "ENST00000910905.1",
"protein_id": "ENSP00000580964.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 690,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910905.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "ENST00000910901.1",
"protein_id": "ENSP00000580961.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 675,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910901.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394His",
"transcript": "ENST00000910900.1",
"protein_id": "ENSP00000580958.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 560,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910900.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000911331.1",
"protein_id": "ENSP00000581390.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 475,
"cds_start": 926,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911331.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234His",
"transcript": "XM_047438143.1",
"protein_id": "XP_047294099.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 400,
"cds_start": 701,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438143.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1431G>A",
"hgvs_p": "p.Pro477Pro",
"transcript": "XM_047438141.1",
"protein_id": "XP_047294097.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 485,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "n.266G>A",
"hgvs_p": null,
"transcript": "ENST00000585935.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000585935.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "n.366G>A",
"hgvs_p": null,
"transcript": "ENST00000593136.2",
"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": "ENST00000593136.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267303",
"gene_hgnc_id": null,
"hgvs_c": "n.-29G>A",
"hgvs_p": null,
"transcript": "ENST00000586529.1",
"protein_id": "ENSP00000467814.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000586529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.*147G>A",
"hgvs_p": null,
"transcript": "XM_047438142.1",
"protein_id": "XP_047294098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438142.1"
}
],
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"dbsnp": "rs753739331",
"frequency_reference_population": 0.000009098932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000934784,
"gnomad_genomes_af": 0.00000675922,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5955005884170532,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.1169,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.928,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_133452.3",
"gene_symbol": "RAVER1",
"hgnc_id": 30296,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586529.1",
"gene_symbol": "ENSG00000267303",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-29G>A",
"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
}