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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: 4-184661848-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184661848&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184661848,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152683.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_152683.4",
"protein_id": "NP_689896.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 560,
"cds_start": 353,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": "ENST00000314970.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "ENST00000314970.11",
"protein_id": "ENSP00000313816.6",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 560,
"cds_start": 353,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": "NM_152683.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "ENST00000512834.5",
"protein_id": "ENSP00000425316.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 353,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "ENST00000515774.5",
"protein_id": "ENSP00000421913.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.278+2411A>G",
"hgvs_p": null,
"transcript": "ENST00000506278.5",
"protein_id": "ENSP00000423409.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.278+2411A>G",
"hgvs_p": null,
"transcript": "ENST00000509002.5",
"protein_id": "ENSP00000423353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001345891.2",
"protein_id": "NP_001332820.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 573,
"cds_start": 353,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001345892.2",
"protein_id": "NP_001332821.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 572,
"cds_start": 353,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001345893.2",
"protein_id": "NP_001332822.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 572,
"cds_start": 353,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001345895.2",
"protein_id": "NP_001332824.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 560,
"cds_start": 353,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "ENST00000503752.5",
"protein_id": "ENSP00000420860.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 560,
"cds_start": 353,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001300768.2",
"protein_id": "NP_001287697.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 353,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001345896.2",
"protein_id": "NP_001332825.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 559,
"cds_start": 353,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "NM_001345899.2",
"protein_id": "NP_001332828.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 476,
"cds_start": 353,
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"cdna_start": 661,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "XM_011531720.2",
"protein_id": "XP_011530022.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 573,
"cds_start": 353,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "XM_017007867.3",
"protein_id": "XP_016863356.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 515,
"cds_start": 353,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "XM_047449752.1",
"protein_id": "XP_047305708.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 339,
"cds_start": 353,
"cds_end": null,
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"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Asn118Ser",
"transcript": "XM_047449753.1",
"protein_id": "XP_047305709.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 311,
"cds_start": 353,
"cds_end": null,
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"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.658A>G",
"hgvs_p": null,
"transcript": "NR_144312.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.658A>G",
"hgvs_p": null,
"transcript": "NR_144313.2",
"protein_id": null,
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"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.661A>G",
"hgvs_p": null,
"transcript": "NR_144314.2",
"protein_id": null,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "n.661A>G",
"hgvs_p": null,
"transcript": "XR_938701.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRIMPOL",
"gene_hgnc_id": 26575,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "NM_001300767.2",
"protein_id": "NP_001287696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
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"cds_length": 1296,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}