← 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: 22-17549256-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17549256&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17549256,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001290047.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3969G>A",
"hgvs_p": "p.Pro1323Pro",
"transcript": "NM_001290047.2",
"protein_id": "NP_001276976.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3969,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262608.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290047.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3969G>A",
"hgvs_p": "p.Pro1323Pro",
"transcript": "ENST00000262608.13",
"protein_id": "ENSP00000262608.11",
"transcript_support_level": 1,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3969,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001290047.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262608.13"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3477G>A",
"hgvs_p": "p.Pro1159Pro",
"transcript": "ENST00000400585.7",
"protein_id": "ENSP00000383428.2",
"transcript_support_level": 1,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400585.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.4029G>A",
"hgvs_p": "p.Pro1343Pro",
"transcript": "ENST00000342247.10",
"protein_id": "ENSP00000341219.6",
"transcript_support_level": 5,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4029,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342247.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3903G>A",
"hgvs_p": "p.Pro1301Pro",
"transcript": "ENST00000612582.1",
"protein_id": "ENSP00000477529.1",
"transcript_support_level": 5,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1442,
"cds_start": 3903,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612582.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Pro1295Pro",
"transcript": "ENST00000925336.1",
"protein_id": "ENSP00000595395.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3885,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925336.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3477G>A",
"hgvs_p": "p.Pro1159Pro",
"transcript": "NM_001290046.2",
"protein_id": "NP_001276975.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290046.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3966G>A",
"hgvs_p": "p.Pro1322Pro",
"transcript": "XM_017028785.2",
"protein_id": "XP_016884274.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3966,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028785.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Pro1295Pro",
"transcript": "XM_011546128.3",
"protein_id": "XP_011544430.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3885,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011546128.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3885G>A",
"hgvs_p": "p.Pro1295Pro",
"transcript": "XM_011546129.3",
"protein_id": "XP_011544431.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3885,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011546129.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3855G>A",
"hgvs_p": "p.Pro1285Pro",
"transcript": "XM_024452234.2",
"protein_id": "XP_024308002.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3855,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452234.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3804G>A",
"hgvs_p": "p.Pro1268Pro",
"transcript": "XM_011546132.3",
"protein_id": "XP_011544434.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1409,
"cds_start": 3804,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011546132.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3801G>A",
"hgvs_p": "p.Pro1267Pro",
"transcript": "XM_047441341.1",
"protein_id": "XP_047297297.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3801,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441341.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3720G>A",
"hgvs_p": "p.Pro1240Pro",
"transcript": "XM_047441342.1",
"protein_id": "XP_047297298.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3720,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441342.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3720G>A",
"hgvs_p": "p.Pro1240Pro",
"transcript": "XM_047441343.1",
"protein_id": "XP_047297299.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3720,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441343.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.3606G>A",
"hgvs_p": "p.Pro1202Pro",
"transcript": "XM_047441344.1",
"protein_id": "XP_047297300.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3606,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441344.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "c.2463G>A",
"hgvs_p": "p.Pro821Pro",
"transcript": "XM_006724079.4",
"protein_id": "XP_006724142.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 962,
"cds_start": 2463,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724079.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"hgvs_c": "n.258G>A",
"hgvs_p": null,
"transcript": "ENST00000355219.4",
"protein_id": "ENSP00000347357.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000355219.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286195",
"gene_hgnc_id": null,
"hgvs_c": "n.102-3205C>T",
"hgvs_p": null,
"transcript": "ENST00000651475.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000651475.1"
}
],
"gene_symbol": "CECR2",
"gene_hgnc_id": 1840,
"dbsnp": "rs146231898",
"frequency_reference_population": 0.0007162543,
"hom_count_reference_population": 13,
"allele_count_reference_population": 1156,
"gnomad_exomes_af": 0.000415269,
"gnomad_genomes_af": 0.00360596,
"gnomad_exomes_ac": 607,
"gnomad_genomes_ac": 549,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.079,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001290047.2",
"gene_symbol": "CECR2",
"hgnc_id": 1840,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3969G>A",
"hgvs_p": "p.Pro1323Pro"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000651475.1",
"gene_symbol": "ENSG00000286195",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.102-3205C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}