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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: 19-35345697-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35345697&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CD22",
"hgnc_id": 1643,
"hgvs_c": "c.2304C>A",
"hgvs_p": "p.Pro768Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001771.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR5196",
"hgnc_id": 43542,
"hgvs_c": "n.*70C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NR_049828.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 54872,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2304,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001771.4",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2304C>A",
"hgvs_p": "p.Pro768Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000085219.10",
"protein_coding": true,
"protein_id": "NP_001762.2",
"strand": true,
"transcript": "NM_001771.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2304,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000085219.10",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2304C>A",
"hgvs_p": "p.Pro768Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001771.4",
"protein_coding": true,
"protein_id": "ENSP00000085219.4",
"strand": true,
"transcript": "ENST00000085219.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "P",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2040,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000536635.6",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2040C>A",
"hgvs_p": "p.Pro680Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442279.1",
"strand": true,
"transcript": "ENST00000536635.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 675,
"aa_ref": "P",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1788,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000419549.6",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.1788C>A",
"hgvs_p": "p.Pro596Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403822.2",
"strand": true,
"transcript": "ENST00000419549.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 670,
"aa_ref": "P",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000594250.5",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.1773C>A",
"hgvs_p": "p.Pro591Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469984.1",
"strand": true,
"transcript": "ENST00000594250.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 751,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": null,
"cds_end": null,
"cds_length": 2256,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544992.6",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2209-454C>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441237.1",
"strand": true,
"transcript": "ENST00000544992.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 2449,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2304,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000918678.1",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2304C>A",
"hgvs_p": "p.Pro768Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588737.1",
"strand": true,
"transcript": "ENST00000918678.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2304,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000948629.1",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2304C>A",
"hgvs_p": "p.Pro768Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618688.1",
"strand": true,
"transcript": "ENST00000948629.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 845,
"aa_ref": "P",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2298,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000884225.1",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2298C>A",
"hgvs_p": "p.Pro766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554284.1",
"strand": true,
"transcript": "ENST00000884225.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 845,
"aa_ref": "P",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2298,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884226.1",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2298C>A",
"hgvs_p": "p.Pro766Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554285.1",
"strand": true,
"transcript": "ENST00000884226.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 759,
"aa_ref": "P",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2040,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001185099.2",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2040C>A",
"hgvs_p": "p.Pro680Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001172028.1",
"strand": true,
"transcript": "NM_001185099.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2031,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884228.1",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2031C>A",
"hgvs_p": "p.Pro677Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554287.1",
"strand": true,
"transcript": "ENST00000884228.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 675,
"aa_ref": "P",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1788,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001278417.2",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.1788C>A",
"hgvs_p": "p.Pro596Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265346.1",
"strand": true,
"transcript": "NM_001278417.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 670,
"aa_ref": "P",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001185101.2",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.1773C>A",
"hgvs_p": "p.Pro591Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001172030.1",
"strand": true,
"transcript": "NM_001185101.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 670,
"aa_ref": "P",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 1857,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000341773.10",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.1773C>A",
"hgvs_p": "p.Pro591Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339349.6",
"strand": true,
"transcript": "ENST00000341773.10",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 668,
"aa_ref": "P",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1767,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000884227.1",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.1767C>A",
"hgvs_p": "p.Pro589Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554286.1",
"strand": true,
"transcript": "ENST00000884227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 751,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": null,
"cds_end": null,
"cds_length": 2256,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001185100.2",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "c.2209-454C>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001172029.1",
"strand": true,
"transcript": "NM_001185100.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000601769.5",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "n.*1609C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000470193.1",
"strand": true,
"transcript": "ENST00000601769.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000601769.5",
"gene_hgnc_id": 1643,
"gene_symbol": "CD22",
"hgvs_c": "n.*1609C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000470193.1",
"strand": true,
"transcript": "ENST00000601769.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": false,
"cdna_end": null,
"cdna_length": 115,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000578146.1",
"gene_hgnc_id": 43542,
"gene_symbol": "MIR5196",
"hgvs_c": "n.*70C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000578146.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 115,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
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