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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: 6-137001928-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137001928&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137001928,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014432.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1292T>C",
"hgvs_p": "p.Leu431Ser",
"transcript": "NM_014432.4",
"protein_id": "NP_055247.4",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 553,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316649.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014432.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1292T>C",
"hgvs_p": "p.Leu431Ser",
"transcript": "ENST00000316649.10",
"protein_id": "ENSP00000314976.5",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 553,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014432.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316649.10"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Leu320Ser",
"transcript": "ENST00000367748.4",
"protein_id": "ENSP00000356722.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 442,
"cds_start": 959,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367748.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Leu432Ser",
"transcript": "ENST00000878901.1",
"protein_id": "ENSP00000548960.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 554,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878901.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Leu409Ser",
"transcript": "ENST00000878902.1",
"protein_id": "ENSP00000548961.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 531,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878902.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1181T>C",
"hgvs_p": "p.Leu394Ser",
"transcript": "ENST00000955116.1",
"protein_id": "ENSP00000625175.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 516,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955116.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Ser",
"transcript": "NM_001278722.2",
"protein_id": "NP_001265651.2",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 504,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278722.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Ser",
"transcript": "ENST00000541547.5",
"protein_id": "ENSP00000437843.1",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 504,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541547.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"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.977T>C",
"hgvs_p": "p.Leu326Ser",
"transcript": "ENST00000878903.1",
"protein_id": "ENSP00000548962.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 448,
"cds_start": 977,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878903.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.959T>C",
"hgvs_p": "p.Leu320Ser",
"transcript": "NM_001278723.3",
"protein_id": "NP_001265652.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 442,
"cds_start": 959,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278723.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"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.911T>C",
"hgvs_p": "p.Leu304Ser",
"transcript": "ENST00000955115.1",
"protein_id": "ENSP00000625174.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 426,
"cds_start": 911,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955115.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.893T>C",
"hgvs_p": "p.Leu298Ser",
"transcript": "NM_001278724.4",
"protein_id": "NP_001265653.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 420,
"cds_start": 893,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278724.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Leu432Ser",
"transcript": "XM_017010954.3",
"protein_id": "XP_016866443.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 554,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010954.3"
}
],
"gene_symbol": "IL20RA",
"gene_hgnc_id": 6003,
"dbsnp": "rs746086665",
"frequency_reference_population": 0.000048329053,
"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.0000513054,
"gnomad_genomes_af": 0.0000197236,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028137147426605225,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.557,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014432.4",
"gene_symbol": "IL20RA",
"hgnc_id": 6003,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1292T>C",
"hgvs_p": "p.Leu431Ser"
}
],
"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
}