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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: 19-35341083-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35341083&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35341083,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000085219.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Cys484Cys",
"transcript": "NM_001771.4",
"protein_id": "NP_001762.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 847,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": "ENST00000085219.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Cys484Cys",
"transcript": "ENST00000085219.10",
"protein_id": "ENSP00000085219.4",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 847,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": "NM_001771.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.1188C>T",
"hgvs_p": "p.Cys396Cys",
"transcript": "ENST00000536635.6",
"protein_id": "ENSP00000442279.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 759,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Cys484Cys",
"transcript": "ENST00000544992.6",
"protein_id": "ENSP00000441237.1",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 751,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Cys312Cys",
"transcript": "ENST00000419549.6",
"protein_id": "ENSP00000403822.2",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 675,
"cds_start": 936,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.921C>T",
"hgvs_p": "p.Cys307Cys",
"transcript": "ENST00000594250.5",
"protein_id": "ENSP00000469984.1",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 670,
"cds_start": 921,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.1188C>T",
"hgvs_p": "p.Cys396Cys",
"transcript": "NM_001185099.2",
"protein_id": "NP_001172028.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 759,
"cds_start": 1188,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Cys484Cys",
"transcript": "NM_001185100.2",
"protein_id": "NP_001172029.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 751,
"cds_start": 1452,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Cys312Cys",
"transcript": "NM_001278417.2",
"protein_id": "NP_001265346.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 675,
"cds_start": 936,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.921C>T",
"hgvs_p": "p.Cys307Cys",
"transcript": "NM_001185101.2",
"protein_id": "NP_001172030.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 670,
"cds_start": 921,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.921C>T",
"hgvs_p": "p.Cys307Cys",
"transcript": "ENST00000341773.10",
"protein_id": "ENSP00000339349.6",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 670,
"cds_start": 921,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2755,
"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": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.381C>T",
"hgvs_p": null,
"transcript": "ENST00000594125.1",
"protein_id": "ENSP00000473221.1",
"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": 954,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.247C>T",
"hgvs_p": null,
"transcript": "ENST00000598815.5",
"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": 589,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.239C>T",
"hgvs_p": null,
"transcript": "ENST00000600655.1",
"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": 999,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.*757C>T",
"hgvs_p": null,
"transcript": "ENST00000601769.5",
"protein_id": "ENSP00000470193.1",
"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": 3060,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.*757C>T",
"hgvs_p": null,
"transcript": "ENST00000601769.5",
"protein_id": "ENSP00000470193.1",
"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": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.-18C>T",
"hgvs_p": null,
"transcript": "ENST00000602123.1",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.*122C>T",
"hgvs_p": null,
"transcript": "ENST00000599811.5",
"protein_id": "ENSP00000469523.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 493,
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.*133C>T",
"hgvs_p": null,
"transcript": "ENST00000600424.5",
"protein_id": "ENSP00000471399.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": -4,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.*54C>T",
"hgvs_p": null,
"transcript": "ENST00000597433.1",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"dbsnp": "rs25677",
"frequency_reference_population": 0.018211849,
"hom_count_reference_population": 1206,
"allele_count_reference_population": 29396,
"gnomad_exomes_af": 0.0144375,
"gnomad_genomes_af": 0.0544578,
"gnomad_exomes_ac": 21106,
"gnomad_genomes_ac": 8290,
"gnomad_exomes_homalt": 634,
"gnomad_genomes_homalt": 572,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.819,
"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,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000085219.10",
"gene_symbol": "CD22",
"hgnc_id": 1643,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Cys484Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}