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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: 21-33268483-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33268483&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33268483,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000290200.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "NM_000628.5",
"protein_id": "NP_000619.3",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 325,
"cds_start": 139,
"cds_end": null,
"cds_length": 978,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "ENST00000290200.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "ENST00000290200.7",
"protein_id": "ENSP00000290200.2",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 325,
"cds_start": 139,
"cds_end": null,
"cds_length": 978,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": "NM_000628.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "c.799A>G",
"hgvs_p": "p.Lys267Glu",
"transcript": "ENST00000433395.7",
"protein_id": "ENSP00000388223.3",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 545,
"cds_start": 799,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "c.799A>G",
"hgvs_p": "p.Lys267Glu",
"transcript": "NM_001414505.1",
"protein_id": "NP_001401434.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 545,
"cds_start": 799,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "NM_001405850.1",
"protein_id": "NP_001392779.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 313,
"cds_start": 139,
"cds_end": null,
"cds_length": 942,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "ENST00000609556.3",
"protein_id": "ENSP00000489965.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 313,
"cds_start": 139,
"cds_end": null,
"cds_length": 942,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "NM_001405849.1",
"protein_id": "NP_001392778.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 269,
"cds_start": 139,
"cds_end": null,
"cds_length": 810,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "ENST00000637650.2",
"protein_id": "ENSP00000489716.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 269,
"cds_start": 139,
"cds_end": null,
"cds_length": 810,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"transcript": "NM_001406840.1",
"protein_id": "NP_001393769.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 222,
"cds_start": 139,
"cds_end": null,
"cds_length": 669,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "n.139A>G",
"hgvs_p": null,
"transcript": "ENST00000422891.5",
"protein_id": "ENSP00000414682.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "n.556A>G",
"hgvs_p": null,
"transcript": "ENST00000493295.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "n.202A>G",
"hgvs_p": null,
"transcript": "ENST00000498371.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.*227A>G",
"hgvs_p": null,
"transcript": "ENST00000646150.1",
"protein_id": "ENSP00000496248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.*249A>G",
"hgvs_p": null,
"transcript": "ENST00000682009.1",
"protein_id": "ENSP00000506919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.*391A>G",
"hgvs_p": null,
"transcript": "ENST00000683116.1",
"protein_id": "ENSP00000508125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "n.192A>G",
"hgvs_p": null,
"transcript": "ENST00000696764.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "n.15A>G",
"hgvs_p": null,
"transcript": "ENST00000696765.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"hgvs_c": "n.238A>G",
"hgvs_p": null,
"transcript": "NR_175973.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.*227A>G",
"hgvs_p": null,
"transcript": "ENST00000646150.1",
"protein_id": "ENSP00000496248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.*249A>G",
"hgvs_p": null,
"transcript": "ENST00000682009.1",
"protein_id": "ENSP00000506919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.*391A>G",
"hgvs_p": null,
"transcript": "ENST00000683116.1",
"protein_id": "ENSP00000508125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "n.308-8113A>G",
"hgvs_p": null,
"transcript": "ENST00000432231.1",
"protein_id": "ENSP00000413946.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL10RB",
"gene_hgnc_id": 5965,
"dbsnp": "rs2834167",
"frequency_reference_population": 0.2753384,
"hom_count_reference_population": 66866,
"allele_count_reference_population": 444155,
"gnomad_exomes_af": 0.277575,
"gnomad_genomes_af": 0.253876,
"gnomad_exomes_ac": 405506,
"gnomad_genomes_ac": 38649,
"gnomad_exomes_homalt": 61045,
"gnomad_genomes_homalt": 5821,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0007564425468444824,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": 0.0813,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.677,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000290200.7",
"gene_symbol": "IL10RB",
"hgnc_id": 5965,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000433395.7",
"gene_symbol": "IFNAR2-IL10RB",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.799A>G",
"hgvs_p": "p.Lys267Glu"
}
],
"clinvar_disease": " susceptibility to,Hepatitis B virus,Inflammatory bowel disease 25,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Hepatitis B virus, susceptibility to|not specified|Inflammatory bowel disease 25|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}