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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: 6-137004710-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137004710&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137004710,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000316649.10",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Ile",
"transcript": "NM_014432.4",
"protein_id": "NP_055247.4",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 553,
"cds_start": 775,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": "ENST00000316649.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Ile",
"transcript": "ENST00000316649.10",
"protein_id": "ENSP00000314976.5",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 553,
"cds_start": 775,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": "NM_014432.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Val148Ile",
"transcript": "ENST00000367748.4",
"protein_id": "ENSP00000356722.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 442,
"cds_start": 442,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Ile",
"transcript": "NM_001278722.2",
"protein_id": "NP_001265651.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 504,
"cds_start": 628,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Ile",
"transcript": "ENST00000541547.5",
"protein_id": "ENSP00000437843.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 504,
"cds_start": 628,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Val148Ile",
"transcript": "NM_001278723.3",
"protein_id": "NP_001265652.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 442,
"cds_start": 442,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Val126Ile",
"transcript": "NM_001278724.4",
"protein_id": "NP_001265653.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 420,
"cds_start": 376,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Val148Ile",
"transcript": "ENST00000468393.5",
"protein_id": "ENSP00000489177.1",
"transcript_support_level": 4,
"aa_start": 148,
"aa_end": null,
"aa_length": 176,
"cds_start": 442,
"cds_end": null,
"cds_length": 531,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Ile",
"transcript": "XM_017010954.3",
"protein_id": "XP_016866443.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 554,
"cds_start": 778,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"dbsnp": "rs1555498",
"frequency_reference_population": 0.97125477,
"hom_count_reference_population": 767584,
"allele_count_reference_population": 1562881,
"gnomad_exomes_af": 0.98264,
"gnomad_genomes_af": 0.861287,
"gnomad_exomes_ac": 1432849,
"gnomad_genomes_ac": 130032,
"gnomad_exomes_homalt": 708337,
"gnomad_genomes_homalt": 59247,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.517948349937797e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.44,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "ENST00000316649.10",
"gene_symbol": "IL20RA",
"hgnc_id": 6003,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}