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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: 19-49861256-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49861256&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PNKP",
"hgnc_id": 9154,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_007254.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.4856,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 12,Developmental and epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3023374080657959,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_007254.4",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"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": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000322344.8",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"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": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000596014.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000593946.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "n.*1485G>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": 16,
"exon_rank_end": null,
"feature": "ENST00000593946.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "n.*1485G>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": "K",
"aa_end": null,
"aa_length": 530,
"aa_ref": "E",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000861313.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1585G>A",
"hgvs_p": "p.Glu529Lys",
"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": "K",
"aa_end": null,
"aa_length": 530,
"aa_ref": "E",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000934451.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1585G>A",
"hgvs_p": "p.Glu529Lys",
"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": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934445.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"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": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934450.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"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": "K",
"aa_end": null,
"aa_length": 514,
"aa_ref": "E",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934449.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Glu513Lys",
"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": "K",
"aa_end": null,
"aa_length": 510,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000965095.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 508,
"aa_ref": "E",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934448.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Glu507Lys",
"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": "K",
"aa_end": null,
"aa_length": 507,
"aa_ref": "E",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000861311.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Glu506Lys",
"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": "K",
"aa_end": null,
"aa_length": 490,
"aa_ref": "E",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000600573.5",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Glu489Lys",
"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": "K",
"aa_end": null,
"aa_length": 485,
"aa_ref": "E",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000631020.2",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Glu484Lys",
"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": "K",
"aa_end": null,
"aa_length": 479,
"aa_ref": "E",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000861312.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Glu478Lys",
"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": "K",
"aa_end": null,
"aa_length": 479,
"aa_ref": "E",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1440,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000965096.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Glu478Lys",
"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": "K",
"aa_end": null,
"aa_length": 472,
"aa_ref": "E",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000965094.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Glu471Lys",
"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": "K",
"aa_end": null,
"aa_length": 471,
"aa_ref": "E",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000934444.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"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": "K",
"aa_end": null,
"aa_length": 455,
"aa_ref": "E",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934447.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Glu454Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604506.1",
"strand": false,
"transcript": "ENST00000934447.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 444,
"aa_ref": "E",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000934446.1",
"gene_hgnc_id": 9154,
"gene_symbol": "PNKP",
"hgvs_c": "c.1327G>A",
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