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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: 1-74724768-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=74724768&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CRYZ",
"hgnc_id": 2419,
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001889.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 1216608,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 162,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001889.4",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340866.10",
"protein_coding": true,
"protein_id": "NP_001880.2",
"strand": false,
"transcript": "NM_001889.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 162,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000340866.10",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001889.4",
"protein_coding": true,
"protein_id": "ENSP00000339399.5",
"strand": false,
"transcript": "ENST00000340866.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 295,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 134,
"cds_end": null,
"cds_length": 888,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370871.7",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359908.3",
"strand": false,
"transcript": "ENST00000370871.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000370872.7",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.-136-1498G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359909.3",
"strand": false,
"transcript": "ENST00000370872.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 201,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001130042.2",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123514.1",
"strand": false,
"transcript": "NM_001130042.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 212,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000370870.6",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359907.2",
"strand": false,
"transcript": "ENST00000370870.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4750,
"cdna_start": 204,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888604.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558663.1",
"strand": false,
"transcript": "ENST00000888604.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 216,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888605.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558664.1",
"strand": false,
"transcript": "ENST00000888605.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 197,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888611.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558670.1",
"strand": false,
"transcript": "ENST00000888611.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 274,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888612.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558671.1",
"strand": false,
"transcript": "ENST00000888612.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 284,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888613.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558672.1",
"strand": false,
"transcript": "ENST00000888613.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 308,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888614.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558673.1",
"strand": false,
"transcript": "ENST00000888614.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 285,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888616.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558675.1",
"strand": false,
"transcript": "ENST00000888616.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 340,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888622.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558681.1",
"strand": false,
"transcript": "ENST00000888622.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 318,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888623.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558682.1",
"strand": false,
"transcript": "ENST00000888623.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 248,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888626.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558685.1",
"strand": false,
"transcript": "ENST00000888626.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 162,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888627.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558686.1",
"strand": false,
"transcript": "ENST00000888627.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 394,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888628.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558687.1",
"strand": false,
"transcript": "ENST00000888628.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 425,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888629.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558688.1",
"strand": false,
"transcript": "ENST00000888629.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 380,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888632.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558691.1",
"strand": false,
"transcript": "ENST00000888632.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 329,
"aa_ref": "G",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 346,
"cds_end": null,
"cds_length": 990,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888634.1",
"gene_hgnc_id": 2419,
"gene_symbol": "CRYZ",
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Gly18Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558693.1",
"strand": false,
"transcript": "ENST00000888634.1",
"transcript_support_level": null
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