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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: 5-139478370-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139478370&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 139478370,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000330794.9",
"consequences": [
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "NM_198282.4",
"protein_id": "NP_938023.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 379,
"cds_start": 659,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": "ENST00000330794.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "ENST00000330794.9",
"protein_id": "ENSP00000331288.4",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 379,
"cds_start": 659,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": "NM_198282.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.895G>A",
"hgvs_p": null,
"transcript": "ENST00000512606.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "ENST00000651699.1",
"protein_id": "ENSP00000499166.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 379,
"cds_start": 659,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "ENST00000652271.1",
"protein_id": "ENSP00000498596.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 379,
"cds_start": 659,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "NM_001301738.2",
"protein_id": "NP_001288667.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 283,
"cds_start": 659,
"cds_end": null,
"cds_length": 852,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"transcript": "ENST00000652110.1",
"protein_id": "ENSP00000498513.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 283,
"cds_start": 659,
"cds_end": null,
"cds_length": 852,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "NM_001367258.1",
"protein_id": "NP_001354187.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 260,
"cds_start": 302,
"cds_end": null,
"cds_length": 783,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000651565.1",
"protein_id": "ENSP00000498768.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 260,
"cds_start": 302,
"cds_end": null,
"cds_length": 783,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000652543.1",
"protein_id": "ENSP00000498683.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 164,
"cds_start": 302,
"cds_end": null,
"cds_length": 495,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.1434G>A",
"hgvs_p": null,
"transcript": "ENST00000502362.2",
"protein_id": null,
"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": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.437G>A",
"hgvs_p": null,
"transcript": "ENST00000502825.1",
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.551G>A",
"hgvs_p": null,
"transcript": "ENST00000503287.5",
"protein_id": null,
"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": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.1992G>A",
"hgvs_p": null,
"transcript": "ENST00000507297.5",
"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": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "ENST00000509573.5",
"protein_id": null,
"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": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.1601G>A",
"hgvs_p": null,
"transcript": "ENST00000511886.6",
"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": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.878G>A",
"hgvs_p": null,
"transcript": "ENST00000514119.6",
"protein_id": null,
"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": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.705G>A",
"hgvs_p": null,
"transcript": "ENST00000515507.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"transcript": "ENST00000650883.1",
"protein_id": "ENSP00000499142.1",
"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": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.1467G>A",
"hgvs_p": null,
"transcript": "ENST00000652293.1",
"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": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.1233G>A",
"hgvs_p": null,
"transcript": "ENST00000652640.1",
"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": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"transcript": "ENST00000650883.1",
"protein_id": "ENSP00000499142.1",
"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": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"hgvs_c": "n.*92G>A",
"hgvs_p": null,
"transcript": "ENST00000511850.1",
"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": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STING1",
"gene_hgnc_id": 27962,
"dbsnp": "rs144010323",
"frequency_reference_population": 0.00078804063,
"hom_count_reference_population": 11,
"allele_count_reference_population": 1272,
"gnomad_exomes_af": 0.000465838,
"gnomad_genomes_af": 0.00388182,
"gnomad_exomes_ac": 681,
"gnomad_genomes_ac": 591,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005348384380340576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.529,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000330794.9",
"gene_symbol": "STING1",
"hgnc_id": 27962,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His"
}
],
"clinvar_disease": "Autoinflammatory syndrome,STING-associated vasculopathy with onset in infancy,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "STING-associated vasculopathy with onset in infancy|Autoinflammatory syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}