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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: 19-18069563-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18069563&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18069563,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001290024.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Pro391Leu",
"transcript": "NM_005535.3",
"protein_id": "NP_005526.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 662,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000593993.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005535.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Pro391Leu",
"transcript": "ENST00000593993.7",
"protein_id": "ENSP00000472165.2",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 662,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005535.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593993.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Pro391Leu",
"transcript": "ENST00000600835.6",
"protein_id": "ENSP00000470788.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 662,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600835.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "NM_001290024.2",
"protein_id": "NP_001276953.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 702,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290024.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"transcript": "NM_001440424.1",
"protein_id": "NP_001427353.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 669,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440424.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"transcript": "NM_001440425.1",
"protein_id": "NP_001427354.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 667,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440425.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Pro391Leu",
"transcript": "NM_001290023.2",
"protein_id": "NP_001276952.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 660,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290023.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Pro442Leu",
"transcript": "XM_011527966.3",
"protein_id": "XP_011526268.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 745,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527966.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Pro438Leu",
"transcript": "XM_011527967.3",
"protein_id": "XP_011526269.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 741,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527967.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "XM_011527968.4",
"protein_id": "XP_011526270.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 738,
"cds_start": 1304,
"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": "XM_011527968.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "XM_011527969.3",
"protein_id": "XP_011526271.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 734,
"cds_start": 1292,
"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": "XM_011527969.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Pro442Leu",
"transcript": "XM_011527970.3",
"protein_id": "XP_011526272.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 725,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527970.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Pro438Leu",
"transcript": "XM_047438767.1",
"protein_id": "XP_047294723.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 721,
"cds_start": 1313,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438767.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "XM_006722741.4",
"protein_id": "XP_006722804.2",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 714,
"cds_start": 1292,
"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": "XM_006722741.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Pro442Leu",
"transcript": "XM_011527971.4",
"protein_id": "XP_011526273.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 713,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527971.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Pro442Leu",
"transcript": "XM_011527972.4",
"protein_id": "XP_011526274.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 711,
"cds_start": 1325,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527972.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "XM_047438768.1",
"protein_id": "XP_047294724.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 706,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438768.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1205C>T",
"hgvs_p": "p.Pro402Leu",
"transcript": "XM_047438769.1",
"protein_id": "XP_047294725.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 705,
"cds_start": 1205,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438769.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Pro435Leu",
"transcript": "XM_047438770.1",
"protein_id": "XP_047294726.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 704,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438770.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu",
"transcript": "XM_011527975.3",
"protein_id": "XP_011526277.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 700,
"cds_start": 1292,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527975.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.1325C>T",
"hgvs_p": "p.Pro442Leu",
"transcript": "XM_011527976.3",
"protein_id": "XP_011526278.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 601,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527976.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Pro197Leu",
"transcript": "XM_017026762.2",
"protein_id": "XP_016882251.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 500,
"cds_start": 590,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026762.2"
}
],
"gene_symbol": "IL12RB1",
"gene_hgnc_id": 5971,
"dbsnp": "rs140254802",
"frequency_reference_population": 0.0018185002,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2928,
"gnomad_exomes_af": 0.0018844,
"gnomad_genomes_af": 0.00118801,
"gnomad_exomes_ac": 2747,
"gnomad_genomes_ac": 181,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008534401655197144,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.0767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.205,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001290024.2",
"gene_symbol": "IL12RB1",
"hgnc_id": 5971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Pro431Leu"
}
],
"clinvar_disease": "IL12RB1-related disorder,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 O:1",
"phenotype_combined": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency|not provided|IL12RB1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}