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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: 19-49861634-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49861634&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PNKP",
"hgnc_id": 9154,
"hgvs_c": "c.1360C>G",
"hgvs_p": "p.Leu454Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_007254.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0794,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 12, and developmental delay, seizures,Developmental and epileptic encephalopathy,Inborn genetic diseases,Microcephaly,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13092699646949768,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_007254.4",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1360C>G",
"hgvs_p": "p.Leu454Val",
"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": "V",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000322344.8",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1360C>G",
"hgvs_p": "p.Leu454Val",
"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": "V",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000596014.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1360C>G",
"hgvs_p": "p.Leu454Val",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000593946.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "n.*1287C>G",
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000593946.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "n.*1287C>G",
"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": "V",
"aa_end": null,
"aa_length": 530,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861313.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Leu463Val",
"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": "V",
"aa_end": null,
"aa_length": 530,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934451.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1387C>G",
"hgvs_p": "p.Leu463Val",
"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": "V",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934445.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1360C>G",
"hgvs_p": "p.Leu454Val",
"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": "V",
"aa_end": null,
"aa_length": 521,
"aa_ref": "L",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934450.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1360C>G",
"hgvs_p": "p.Leu454Val",
"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": "V",
"aa_end": null,
"aa_length": 514,
"aa_ref": "L",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934449.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1339C>G",
"hgvs_p": "p.Leu447Val",
"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": "V",
"aa_end": null,
"aa_length": 510,
"aa_ref": "L",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965095.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1327C>G",
"hgvs_p": "p.Leu443Val",
"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": "V",
"aa_end": null,
"aa_length": 508,
"aa_ref": "L",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934448.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1321C>G",
"hgvs_p": "p.Leu441Val",
"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": "V",
"aa_end": null,
"aa_length": 507,
"aa_ref": "L",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1318,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861311.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Leu440Val",
"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": "V",
"aa_end": null,
"aa_length": 490,
"aa_ref": "L",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000600573.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1267C>G",
"hgvs_p": "p.Leu423Val",
"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": "V",
"aa_end": null,
"aa_length": 485,
"aa_ref": "L",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000631020.2",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1252C>G",
"hgvs_p": "p.Leu418Val",
"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": "V",
"aa_end": null,
"aa_length": 479,
"aa_ref": "L",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861312.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1234C>G",
"hgvs_p": "p.Leu412Val",
"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": "V",
"aa_end": null,
"aa_length": 479,
"aa_ref": "L",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965096.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1234C>G",
"hgvs_p": "p.Leu412Val",
"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": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "L",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965094.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1213C>G",
"hgvs_p": "p.Leu405Val",
"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": "C",
"aa_end": null,
"aa_length": 471,
"aa_ref": "S",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934444.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1250C>G",
"hgvs_p": "p.Ser417Cys",
"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": "C",
"aa_end": null,
"aa_length": 455,
"aa_ref": "S",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000600910.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1250C>G",
"hgvs_p": "p.Ser417Cys",
"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": "V",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934446.1",
"gene_hgnc_id": 9154,
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