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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: 1-151411656-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151411656&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Asn639Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001410860.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 369,
"alphamissense_prediction": null,
"alphamissense_score": 0.0804,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.061409175395965576,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "N",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 4233,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_015100.4",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asn632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271715.7",
"protein_coding": true,
"protein_id": "NP_055915.2",
"strand": false,
"transcript": "NM_015100.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "N",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 4233,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000271715.7",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asn632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015100.4",
"protein_coding": true,
"protein_id": "ENSP00000271715.2",
"strand": false,
"transcript": "ENST00000271715.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "N",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 4074,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000392723.6",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Asn579Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376484.1",
"strand": false,
"transcript": "ENST00000392723.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "N",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 3948,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000368863.6",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1610A>G",
"hgvs_p": "p.Asn537Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357856.2",
"strand": false,
"transcript": "ENST00000368863.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "N",
"aa_start": 648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 4281,
"cds_start": 1943,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000710270.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1943A>G",
"hgvs_p": "p.Asn648Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518163.1",
"strand": false,
"transcript": "ENST00000710270.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "N",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6452,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 4254,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001410860.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Asn639Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397789.1",
"strand": false,
"transcript": "NM_001410860.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "N",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 4254,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000703168.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Asn639Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515214.1",
"strand": false,
"transcript": "ENST00000703168.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "N",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 3474,
"cds_end": null,
"cds_length": 4233,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000439756.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asn632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390156.2",
"strand": false,
"transcript": "ENST00000439756.2",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "N",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6628,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001194937.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Asn623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181866.1",
"strand": false,
"transcript": "NM_001194937.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "N",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000409503.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Asn623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386836.1",
"strand": false,
"transcript": "ENST00000409503.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "N",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 4101,
"cds_start": 1763,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000491586.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1763A>G",
"hgvs_p": "p.Asn588Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418408.1",
"strand": false,
"transcript": "ENST00000491586.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 1357,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6153,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 4074,
"cds_start": 1736,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_207171.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Asn579Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997054.1",
"strand": false,
"transcript": "NM_207171.2",
"transcript_support_level": null
},
{
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"aa_length": 1348,
"aa_ref": "N",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 4047,
"cds_start": 1709,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001194938.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181867.1",
"strand": false,
"transcript": "NM_001194938.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1348,
"aa_ref": "N",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 4047,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000531094.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1709A>G",
"hgvs_p": "p.Asn570Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431259.1",
"strand": false,
"transcript": "ENST00000531094.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
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"aa_length": 1315,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 3948,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_145796.4",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1610A>G",
"hgvs_p": "p.Asn537Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665739.3",
"strand": false,
"transcript": "NM_145796.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "N",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7188,
"cdna_start": 2772,
"cds_end": null,
"cds_length": 4233,
"cds_start": 1895,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005245000.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asn632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245057.1",
"strand": false,
"transcript": "XM_005245000.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1410,
"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6351,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047450064.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1895A>G",
"hgvs_p": "p.Asn632Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306020.1",
"strand": false,
"transcript": "XM_047450064.1",
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},
{
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"aa_ref": "N",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6425,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 4227,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047450065.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1889A>G",
"hgvs_p": "p.Asn630Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306021.1",
"strand": false,
"transcript": "XM_047450065.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2745,
"cds_end": null,
"cds_length": 4206,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017000746.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Asn623Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856235.1",
"strand": false,
"transcript": "XM_017000746.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "N",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6293,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 4095,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017000748.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.1757A>G",
"hgvs_p": "p.Asn586Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856237.2",
"strand": false,
"transcript": "XM_017000748.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "N",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6496,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 4074,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005245005.3",
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