← Back to variant description
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: 16-30506720-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30506720&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30506720,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000356798.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2372G>C",
"hgvs_p": "p.Arg791Thr",
"transcript": "NM_002209.3",
"protein_id": "NP_002200.2",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2372,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": "ENST00000356798.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2372G>C",
"hgvs_p": "p.Arg791Thr",
"transcript": "ENST00000356798.11",
"protein_id": "ENSP00000349252.5",
"transcript_support_level": 1,
"aa_start": 791,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2372,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": "NM_002209.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2120G>C",
"hgvs_p": "p.Arg707Thr",
"transcript": "ENST00000358164.9",
"protein_id": "ENSP00000350886.5",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2120,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2120G>C",
"hgvs_p": "p.Arg707Thr",
"transcript": "NM_001114380.2",
"protein_id": "NP_001107852.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2120,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.80G>C",
"hgvs_p": "p.Arg27Thr",
"transcript": "ENST00000679323.1",
"protein_id": "ENSP00000504443.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 368,
"cds_start": 80,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2369G>C",
"hgvs_p": "p.Arg790Thr",
"transcript": "XM_005255313.1",
"protein_id": "XP_005255370.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 1169,
"cds_start": 2369,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.2123G>C",
"hgvs_p": "p.Arg708Thr",
"transcript": "XM_006721044.2",
"protein_id": "XP_006721107.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2123,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1388G>C",
"hgvs_p": "p.Arg463Thr",
"transcript": "XM_047434072.1",
"protein_id": "XP_047290028.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 842,
"cds_start": 1388,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.1385G>C",
"hgvs_p": "p.Arg462Thr",
"transcript": "XM_047434073.1",
"protein_id": "XP_047290029.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 841,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 4118,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.509G>C",
"hgvs_p": null,
"transcript": "ENST00000562020.1",
"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": 561,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*288G>C",
"hgvs_p": null,
"transcript": "ENST00000563615.5",
"protein_id": "ENSP00000458739.1",
"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": 575,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.276G>C",
"hgvs_p": null,
"transcript": "ENST00000568926.5",
"protein_id": "ENSP00000457785.1",
"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": 559,
"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": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*3939G>C",
"hgvs_p": null,
"transcript": "ENST00000676652.1",
"protein_id": "ENSP00000503942.1",
"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": 7524,
"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": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*1438G>C",
"hgvs_p": null,
"transcript": "ENST00000677830.1",
"protein_id": "ENSP00000503623.1",
"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": 4916,
"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": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*2113G>C",
"hgvs_p": null,
"transcript": "ENST00000678203.1",
"protein_id": "ENSP00000504379.1",
"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": 5711,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*288G>C",
"hgvs_p": null,
"transcript": "ENST00000563615.5",
"protein_id": "ENSP00000458739.1",
"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": 575,
"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": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*3939G>C",
"hgvs_p": null,
"transcript": "ENST00000676652.1",
"protein_id": "ENSP00000503942.1",
"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": 7524,
"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": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*1438G>C",
"hgvs_p": null,
"transcript": "ENST00000677830.1",
"protein_id": "ENSP00000503623.1",
"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": 4916,
"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": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "n.*2113G>C",
"hgvs_p": null,
"transcript": "ENST00000678203.1",
"protein_id": "ENSP00000504379.1",
"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": 5711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"hgvs_c": "c.334-4173G>C",
"hgvs_p": null,
"transcript": "ENST00000433423.2",
"protein_id": "ENSP00000409377.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": -4,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGAL",
"gene_hgnc_id": 6148,
"dbsnp": "rs2230433",
"frequency_reference_population": 0.31063285,
"hom_count_reference_population": 86195,
"allele_count_reference_population": 500432,
"gnomad_exomes_af": 0.308705,
"gnomad_genomes_af": 0.329189,
"gnomad_exomes_ac": 450521,
"gnomad_genomes_ac": 49911,
"gnomad_exomes_homalt": 77232,
"gnomad_genomes_homalt": 8963,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000045441361180564854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "ENST00000356798.11",
"gene_symbol": "ITGAL",
"hgnc_id": 6148,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2372G>C",
"hgvs_p": "p.Arg791Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}