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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: 19-49862186-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49862186&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "PNKP",
"hgnc_id": 9154,
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_007254.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 12,Developmental and epileptic encephalopathy,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5600000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_007254.4",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322344.8",
"protein_coding": true,
"protein_id": "NP_009185.2",
"strand": false,
"transcript": "NM_007254.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000322344.8",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007254.4",
"protein_coding": true,
"protein_id": "ENSP00000323511.2",
"strand": false,
"transcript": "ENST00000322344.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000596014.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472300.1",
"strand": false,
"transcript": "ENST00000596014.5",
"transcript_support_level": 1
},
{
"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": 1723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000593946.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "n.*1052G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468896.1",
"strand": false,
"transcript": "ENST00000593946.5",
"transcript_support_level": 1
},
{
"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": 1723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000593946.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "n.*1052G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468896.1",
"strand": false,
"transcript": "ENST00000593946.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1152,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861313.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Gly384Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531372.1",
"strand": false,
"transcript": "ENST00000861313.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1152,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934451.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1152G>A",
"hgvs_p": "p.Gly384Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604510.1",
"strand": false,
"transcript": "ENST00000934451.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000934445.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604504.1",
"strand": false,
"transcript": "ENST00000934445.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000934450.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604509.1",
"strand": false,
"transcript": "ENST00000934450.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 514,
"aa_ref": "G",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1104,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000934449.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Gly368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604508.1",
"strand": false,
"transcript": "ENST00000934449.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 510,
"aa_ref": "G",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1092,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965095.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Gly364Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635154.1",
"strand": false,
"transcript": "ENST00000965095.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 508,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1086,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000934448.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Gly362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604507.1",
"strand": false,
"transcript": "ENST00000934448.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 507,
"aa_ref": "G",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1083,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861311.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Gly361Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531370.1",
"strand": false,
"transcript": "ENST00000861311.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 490,
"aa_ref": "G",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1032,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000600573.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Gly344Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469826.1",
"strand": false,
"transcript": "ENST00000600573.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 485,
"aa_ref": "G",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1017,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000631020.2",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Gly339Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486707.1",
"strand": false,
"transcript": "ENST00000631020.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 479,
"aa_ref": "G",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1440,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000861312.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Gly333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531371.1",
"strand": false,
"transcript": "ENST00000861312.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 479,
"aa_ref": "G",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1440,
"cds_start": 999,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965096.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.999G>A",
"hgvs_p": "p.Gly333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635155.1",
"strand": false,
"transcript": "ENST00000965096.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 472,
"aa_ref": "G",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1419,
"cds_start": 978,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965094.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Gly326Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635153.1",
"strand": false,
"transcript": "ENST00000965094.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 471,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000934444.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604503.1",
"strand": false,
"transcript": "ENST00000934444.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1125,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000600910.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1125G>A",
"hgvs_p": "p.Gly375Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473137.1",
"strand": false,
"transcript": "ENST00000600910.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 375,
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